Enfermedades raras más frecuentes de los niños de alto riesgo (NAR)
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Ciencias médicas, Pediatría, Atención al paciente, Tratamiento médicoSinopsis
Las enfermedades raras también denominadas huérfanas, son alteraciones genéticas. A finales del siglo XX se establecieron como una causa importante de morbimortalidad a nivel mundial. Este término fue introducido en Estados Unidos a mediados de los años 80, reciben este nombre por la baja prevalencia en la población, su terminología guarda cierta relación con fármacos que para ese tiempo presentaban una investigación deficiente, considerándose huérfanos, por lo que el abordaje terapéutico en ciertos casos es limitado.
Según datos de la OMIM (Online Mendelian Inheritance in Man) existen 10.000 enfermedades huérfanas aproximadamente y datos de la OMS (Organización Mundial de la Salud) mencionan que estas patologías comprometen al 7% de los habitantes, equivalente a 500 millones de individuos. De esta manera este grupo de afecciones se constituye como la segunda causa de deceso en recién nacidos hasta los 28 días.
En América Latina, existen subregistros de estas enfermedades debido al difícil diagnóstico y al déficit de conocimiento acerca de las mismas. Por ello es fundamental contar con información confiable, pruebas diagnósticas y apoyo psicosocial en centros capacitados y especializados en el tema.
El presente libro tiene como finalidad ampliar el conocimiento referente a diversos síndromes catalogados como raros; abarcando definiciones, etiologías, datos epidemiológicos; haciendo especial énfasis en puntos clave que permiten su identificación y diferenciación de otros cuadros patológicos similares; se incluye la fisiopatología, manifestaciones clínicas, diagnóstico, tratamiento, pronóstico y complicaciones. A continuación, se detalla una breve introducción de los síndromes raros de mayor frecuencia en el medio.
El Síndrome de Sotos (SSt), fue descrito por primera vez hace 58 años como un trastorno con una clínica muy específica y reconocible, cuyo fenotipo consiste principalmente en hallazgos neuroconductuales; casi 43 años después se identificó al gen de la proteína 1 (NSD1) como el causante.
El funcionamiento correcto de NSD1 es de suma importancia en múltiples aspectos de desarrollo y enfermedades, tanto en casos humanos como en modelos animales, se recalca la necesidad de la vigilancia activa en el SSt considerando la posibilidad de que un mecanismo patogénico peor pueda estar presente.
La identificación del SSt se realiza comúnmente en la infancia, adolescencia o edad adulta, considerándose raro el informe del diagnóstico de casos fetales, pues este depende principalmente de los hallazgos ecográficos y pruebas genéticas.
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Harris, JR., et al. (2019). Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype. Current Opinion in Psychiatry. 32(2): 55–59. doi:10.1097/yco.0000000000000481.
Choi, S., et al. (2021). Drosophila NSD deletion induces developmental anomalies similar to those seen in Sotos syndrome 1 patients. Genes & Genomics. 43(7): 737–748. doi:10.1007/s13258-021-01091-2.
Citoni B, et al. (2021). SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor? Genes (Basel). 12(11):1782. doi: 10.3390/genes12111782.
Zhang, Y., et al. (2017). Prenatal diagnosis of Sotos syndrome characterized by fetal growth restriction. International Journal of Gynecology & Obstetrics. 139(2): 248–250. doi:10.1002/ijgo.12269.
Gupta, S., y Dayal, D., (2019). Precocious Puberty in an Infant with Sotos Syndrome. Indian Pediatr. 56(6):516.
Ragaie, C., et al. (2021). Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome. International Journal of Neuroscience. 1–5. doi:10.1080/00207454.2021.1886096.
Grand, K., et al. (2019). Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American Journal of Medical Genetics Part A. 179(4):542-551. doi:10.1002/ajmg.a.61062.
Han, JY., et al. (2017). Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. Clinica Chimica Acta. 470: 31–35. doi:10.1016/j.cca.2017.04.025.
Mencarelli A, et al. (2018). Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma. Int J Mol Sci. 19(10):3189. doi: 10.3390/ijms19103189.
Verhofste, BP., et al. (2020). Spinal Deformity in Sotos Syndrome: First Results of Growth-friendly Spine Surgery. Journal of Pediatric Orthopaedics. 40(9): 453–461. doi:10.1097/bpo.0000000000001554.
Muhsin, E., et al. (2022). Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience. Journal of Molecular Neuroscience. 72(1):149-157. doi:10.1007/s12031-021-01897-5.
Watanabe, H., et al. (2019). DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2 ‐DMR0 as a DNA methylation‐dependent, P0 promoter- specific enhancer. The FASEB Journal. 34(1): 960–973. doi:10.1096/fj.201901757r.
Oshima T, et al. (2017). A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection. Hum Genome Var. 4:17022. doi: 10.1038/hgv.2017.22.
Mubungu, G., et al. (2020). Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). American Journal of Medical Genetics Part A. 182(7):1572-1575. doi:10.1002/ajmg.a.61617.
Marzin, P., et al. (2019). SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181(4):509-518. doi:10.1002/ajmg.c.31746.
Lane, C., et al. (2018). The cognitive profile of Sotos syndrome. Journal of Neuropsychology. 13(2):240-252. doi:10.1111/jnp.12146.
Kamal, NM., et al. (2018). Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene. Medicine. 97(47): e12867. doi:10.1097/MD.0000000000012867.
Tauchmann, S., y Schwaller, J. (2021). NSD1: A Lysine Methyltransferase between Developmental Disorders and Cancer. Life (Basel, Switzerland). 11(9): 877. doi:10.3390/life11090877.
Oishi, S., et al. (2020). Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1. Genes, brain, and behavior. 19(4): e12637. doi:10.1111/gbb.12637.
Laccetta, G., et al. (2017). A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome. Frontiers in pediatrics. 5: 236. doi:10.3389/fped.2017.00236.
Kuzucu, P., et al. (2020). First report of tethered cord syndrome in a patient with Sotos syndrome. BMC pediatrics. 20(1): 183. doi: 10.1186/s12887-020-02068-y.
Verma, A., et al. (2021). Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism. International journal of pediatrics & adolescent medicine. 8(3): 191–194.
doi: 10.1016/j.ijpam.2020.06.001.
Villate, O., et al. (2022). RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome. Frontiers in pediatrics. 10: 827802. doi: 10.3389/fped.2022.827802.
Tatton-Brown, K., Cole, T., & Rahman, N. (2004). [Updated 2019 Aug 1]. Sotos Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
Özcabi, B., et al. (2020). A case of sotos syndrome caused by a novel variant in the nsd1 gene: a proposed rationale to treat accompanying precocious puberty. Acta endocrinológica. 16(2): 245–249.
doi:10.4183/aeb.2020.245.
Castro, M., et al. (2021). Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome. American journal of medical genetics. Part A. 185(12): 3916–3923. doi:10.1002/ajmg.a.62454.
Foster, A., et al. (2019). The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. American journal of medical genetics. Part C, Seminars in medical genetics. 181(4): 502–508. doi:10.1002/ajmg.c.31738.
Panda, PK., et al. (2022). Developmental Delay and Epilepsy Without Gigantism: An Unusual Presentation of Soto’s Syndrome Due to A Novel Mutation in the NSD1 Gene. Annals of Indian Academy of Neurology. 25(1): 152–153. doi: 10.4103/aian.AIAN_209_21.
Lane, C., et al. (2017). Characteristics of Autism Spectrum Disorder in Sotos Syndrome. Journal of autism and developmental disorders. 47(1): 135–143. doi:10.1007/s10803-016-2941-z.
Fortin, O., et al. (2021). Seizures in Sotos syndrome: Phenotyping in 49 patients. Epilepsia open. 6(2): 425–430. doi:10.1002/epi4.12484.
Danis, DO., et al. (2021). The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. International journal of pediatric otorhinolaryngology. 143: 110649. doi: 10.1016/j.ijporl.2021.110649.
Sio, C., et al. (2017) Sotos syndrome associated with Hirschsprung’s disease: a new case and exome-sequencing analysis. Pediatr Res. 82: 87–92. doi:10.1038/pr.2017.106.
Brennan, K., et al. (2022). NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome. Human molecular genetics, ddac026. Advance online publication. doi:10.1093/hmg/ddac026.
Chen, CP., et al. (2014). Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome. Taiwanese journal of obstetrics & gynecology. 53(4): 583–587. doi: 10.1016/j.tjog.2014.10.002.
Eugster, E. y Pescovitz, H. (2018) Gigantism. The Journal of Clinical Endocrinology y metabolism. 84(12): 4379-4383. PMID: 25905378.
Manor, J. y Lalani, S. (2020) Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 30(8): 574857. doi: 10.3389/fped.2020.574857
Wang, J. et al. (2021) Challenges of phototherapy for neonatal hyperbilirubinemia (Review). Exp Ther Med. 21(3):231. doi: 10.3892/etm.2021.9662.
Pitchik, H., et al. (2018) Prenatal nutrition, stimulation, and exposure to punishment are associated with early child motor, cognitive, language, and socioemotional development in Dar es Salaam, Tanzania. Child Care Health Dev. 44(6): 841-849. doi: 10.1111/cch.12605.
Salcedo, M., et al. (2020) Fragile X syndrome: clinical presentation, pathology and treatment. Gac Med Mex. 156(1): 60-66. doi: 10.24875/GMM.19005275.
Brioude, F., et al. (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 14(4): 229-249. doi: 10.1038/nrendo.2017.166
Bedirli, N., et al. (2018) Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review. Medicine (Baltimore). 97(3): e9661. doi: 10.1097/MD.0000000000009661.
Shaw, A., et al. (2010) Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A. 152A (11): 2714-26. doi: 10.1002/ajmg.a.33709.
Priolo, M., et al. (2018) Further delineation of Malan Syndrome. Hum Mutat. 39(9): 1226-1237. doi: 10.1002/humu.23563
Coelho, S., y Almeida, A. (2020) Marfan syndrome revisited: From genetics to the clinic. Rev Port Cardiol (Engl Ed). 39(4): 215-226. doi: 10.1016/j.repc.2019.09.008.
Salinas, I., et al. (2021) Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes. Cureus. 13(10): e18543. doi: 10.7759/cureus.18543.
Ridderbusch, K., et al. (2018) Strategies for Treating Scoliosis in Early Childhood. Dtsch Arztebl Int. 115(22): 371-376. doi: 10.3238/arztebl.2018.0371.
Battig, L., et al. (2021) Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epileptic Disord. 23(3): 506-510. doi: 10.1684/epd.2021.1287.
Lapunzina, P. (2005) Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet. 137C(1): 53-71. doi: 10.1002/ajmg.c.30064.
Tatton-Brown, K., et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 77(2): 193-204. doi: 10.1086/432082.
Sarismki, K. (2003) Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. Dev Med Child Neurol. 45(3): 172-8. doi: 10.1017/s0012162203000331.
Longhir, G., et al. (2021). SÍNDROME DE RETT –RELATO DE UM CASO RARO. Arquivos Catarinenses de Medicina. 50(2): 363-367.
IP, J., (2018). Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nature Reviews. Neuroscience. 19(6): 368-382. doi:10.1038/s41583-018-0006-3.
Gold, WA., et al. (2018). Rett síndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. ACS Chemical Neuroscience. 9(2): 167-176. doi:10.1021/acschemneuro.7b00346.
Liao, W. (2018). Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots. Developmental Neurobiology. 79(1): 51-59. doi:10.1002/dneu.22651.
Aron, CW., et al. (2019). Rett Syndrome: MECP2 gene molecular análisis in Chilean patients. Revista Chilena de Pediatría. 90(2): 152-156. doi:10.32641/rchped.v90i2.724.
Hernández, O., et al. (2019). Síndrome de Rett. Informe de caso. Acta Médica del Centro. 13(1): 84-88.
Kyle, SM., et al. (2018). Rett síndrome: a neurological disorder with metabolic components. Open Biology. 8(1): 1-17. doi: 10.1098/rsob.170216.
García, L. (2018). El síndrome de Rett en el aula. Revista Internacional de Apoyo a la Inclusión, Logopedia, Sociedad y Multiculturalidad. 4(3): 66-75. doi:10.17561/riai.v4.n3.15.
Rett syndrome [Internet]. nhs.uk. [citado el 29 de junio de 2022]. Disponible en: https://www.nhs.uk/conditions/rett-syndrome/
INSERM US14 -- TODOS LOS DERECHOS RESERVADOS. Orphanet: Rett syndrome [Internet]. Orpha.net. [citado el 29 de junio de 2022]. Disponible en: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=91&Disease(s)/group%20of%20diseases=Rett-syndrome&title=Rett%20syndrome&search=Disease_Search_Simple&ChdId=0
Hernández, C.E., et al. (2018). Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular. Acta Neurológica Colombiana. 34(1): 2-15. doi:10.22379/24224022174.
Guan, R., et al.(2020). Clinical practice guidelines for Rett síndrome. Chinese Journal of Medical Genetics. 37(3): 308-312. doi:10.3760/cma.j.issn.1003-9406.2020.03.014.
Reza, L., et al. (2018). Trastornos del espectro autista: síndrome de rett y su repercusión en el rendimiento académico. Revista: Atlante. Cuadernos de Educación y Desarrollo, ISSN: 1989-4155.
MSP. (2017). Trastornos del espectro autista en niños y adolescentes: detección, diagnóstico, tratamiento, rehabilitación y seguimiento. Guía de Práctica Clínica (GPC) 2017.
Pejhan, S., et al. (2021). Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease. Biomolecules. 11(1): 1-27. doi:10.3390/biom11010075.
Gulmez, K., et al. (2019). MeCP2: A Critical Regulator of Chromatin in Neurodevelopment and Adult Brain Function. International Journal of Molecular Sciences. 20(18): 1-17. doi:10.3390/ijms20184577.
Marano, D., et al. (2021). Transcriptomic and Epigenomic Landscape in Rett Syndrome. Biomolecules. 11(7): 1-26. doi:10.3390/biom11070967.
Renthal, W., et al. (2018). Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing. HHS Public Access. 21(12): 1670-1679. doi:10.1038/s41593-018-0270-6.
Sharifi, O., et al. (2021). The Molecular Functions of MeCP2 in Rett Syndrome Pathology. Frontiers in Genetics. 12: 1-15. doi:10.3389/fgene.2021.624290.
Kahanovitch, U., et al. (2019). Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome. International Journal of Molecular Sciences. 20(15): 1-18. doi:10.3390/ijms20153813.
Dong, Q., et al. (2018). Mechanism and consequence of abnormal calcium homeostasis in Rett syndrome astrocytes. ELife. 7: 1-29. doi:10.7554/eLife.33417.
Peters, SU., et al. (2019). Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome. Clin Genet. 95(5): 575-581. doi:10.1111/cge.13521.
Ramírez, JM., et al. (2020). The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions. Physiology (Bethesda). 35(6): 375-390. doi:10.1152/physiol.00008.2020.
Pecorelli, A., et al. (2020). Compromised immune/inflammatory responses in Rett syndrome. Free Radical Biology and Medicine. 152: 110-106. doi:10.1016/j.freeradbiomed.2020.02.023.
Crivellari, I., et al. (2021). Impaired mitochondrial quality control in Rett Syndrome. Archives of Biochemistry and Biophysics. 700. doi:10.1016/j.abb.2021.108790.
Singh, J., et al. (2021). Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations. Psychiatry and Clinical Neurosciences. 75(12): 369-393. doi:10.1111/pcn.13299.
Kaur, S., y Christodoulou, J. (2019). MECP2 Disorders. GeneReviews. 1-26.
Candala, D., et al. (2021). Síndrome de Rett. Revista Sanitaria de Investigación.
Hidalgo, MT., et al. (2021). La musicoterapia como herramienta para mejorar el desarrollo del alumnado con síndrome de rett. Educación y futuro digital. (17): 133-155.
Anaya ÁG. Síndrome de Rett: cuando el director de orquesta falla [Internet]. GranadaDigital. 2016 [citado el 29 de junio de 2022]. Disponible en: https://www.granadadigital.es/sindrome-de-rett-cuando-el-director-de-orquesta-falla/
Downs, J., et al. (2021). Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome. The Journal of Pediatrics. 233: 244-249. doi:10.1016/j.jpeds.2021.06.060.
Downs, J., et al. (2010). Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Developmental Medicine & Child Neurology. 52(9): 817-823. doi:10.1111/j.1469-8749.2010.03636.x.
Jara, AC., et al. (2021). Síndrome de Rett: reporte de una nueva variante patogénica y revisión de la literatura a propósito de dos casos clínicos. Boletín médico del Hospital Infantil de México. 12(8): 1-2. doi:10.3390/genes12081157.
Rocos, B., et al. (2021). Correcting Scoliosis in Rett Syndrome. Cureus. 13(6): 2-6. doi:10.7759/cureus.15411.
Humphrey, K., et al. (2020). Features of Menstruation and Menstruation Management in Individuals with Rett Syndrome. Journal of Pediatric and Adolescent Gynecology. 34(2): 144-153. doi:10.1016/j.jpag.2020.11.002.
Mancini, J., et al. (2017). Effect of desipramine on patients with breathing disorders in RETT syndrome. ANNALS of Clinical and Translational Neurology. 5(2): 118-127. doi:10.1002/acn3.468.
Amaddeo, A., et al. (2019). Polysomnographic findings in Rett syndrome. European Journal of Pediatric Neurology. 23(1): 214-221. doi:10.1016/j.ejpn.2018.09.003.
Bianco, E., et al. (2018). Oral findings in Rett syndrome: An update and review of the literature. Dental and medical problems. 55(4): 441-445. doi:10.17219/dmp/99203.
Wong, L., et al. (2021). Dietary intake and growth deficits in Rett syndrome—A cross-section study. Autism Research. 14(7): 1512-1521. doi:10.1002/aur.2508.
Ivy, AS., et al. (2021). Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates. Seminars in Pediatric Neurology. 37: 1-7. doi:10.1016/j.spen.2021.100881.
Jara, AC., et al. (2021). Síndrome de Rett: reporte de una nueva variante patogénica y revisión de la literatura a propósito de dos casos clínicos. Boletín Médico del Hospital Infantil de México. 78(4): 356-361. doi:10.24875/BMHIM.20000121.
Lorenz, J. (2019). Can Rett syndrome be diagnosed before regression? Neuroscience and Biobehavioral Reviews. 104: 158-159. doi:10.1016/j.neubiorev.2019.07.005.
Percy, AK., et al. (2018). When Rett syndrome is due to genes other than MECP2. Translational Science of Rare Diseases. 3(1): 49-53. doi:10.3233/TRD-180021.
Arellano, L., et al. (2018). Patrones Neurorradiológicos en las Enfermedades Metabólicas Hereditarias: Claves Diagnósticas. SERAM, 1-27.
Fonzo, M., et al. (2020). Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review. Brain Sciences. 10(7): 1-14. doi:10.3390/brainsci10070410.
Vashi, N., et al. (2019). Treating Rett syndrome: from mouse models to human therapies. Mammalian Genome. 30(5): 90-100. doi:10.1007/s00335-019-09793-5.
Schönewolf, et al. (2019). Clinician’s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clinical Genetics. 95(2): 221-230. doi:10.1111/cge.13153.
Borloz, E., et al. (2021). Rett syndrome: think outside the (skull) box: A Systematic Review. Faculty Reviews. 10(59): 1-9. doi:10.12703/r/10-59.
Fu, C., et al. (2020). Multisystem comorbidities in classic Rett síndrome: a scoping review. BMJ Paediatrics Open. 4(1): 1-6. doi:10.1136/bmjpo-2020-000731.
Pascual, A., et al. (2021). MECP2-Related Disorders in Males. International Journal of Molecular Sciences. 22(17): 1-16. doi:10.3390/ijms22179610.
Pogue, R., et al. (2018). Rare genetic diseases: update on diagnosis, treatment and online resources. Drug Discov. 23(1): 187-195. doi: 10.1016/j.drudis.2017.11.002.
Zhou, P., et al (2020) Interpretation of the first international consensus for Cornelia de Lange syndrome. Zhongguo Dang Dai Er Ke Za Zhi. 22(8):815-820. doi: 10.7499/j.issn.
Singh, V., et al. (2020). Persistent DNA Damage and Senescence in the Placenta Impacts Developmental Outcomes of Embryos. Dev Cell. 54(3):333-347. doi: 10.1016/j.devcel.2020.05.025.
Piché, J., et al. (2019). The expanding phenotypes of cohesinopathies: one ring to rule them all. Cell Cycle. 18(21): 2828-2848. doi: 10.1080/15384101.2019.1658476.
Huisman, et al. (2013). High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet. 50(5):339-44. doi: 10.1136/jmedgenet-2012-101477.
Mills, J., et al. (2018). NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Sci Rep. 8(1):1056. doi: 10.1038/s41598-018-19173-9.
Deardorff, M., et al. (2007). Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 80(3):485-94. doi: 10.1086/511888.
Ansari, M., et al. (2014). Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet. 51(10):659-68. doi: 10.1136/jmedgenet-2014-102573.
Jouret, G., et al. (2022). Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. Clin Genet. doi: 10.1111/cge.14141.
Chen, Z., et al. (2022). Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S). Stem Cell Res. doi: 10.1016/j.scr.2022.102756.
Oguni, H., et al. (2019). A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. Epilepsy Res. doi: 10.1016/j.eplepsyres.2019.06.001.
Olley, G., et al. (2021). Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect. Nat Commun. 12(1):3127. doi: 10.1038/s41467-021-23500-6.
Dowsett, L., et al. (2019). Cornelia de Lange Syndrome in Diverse Populations. Am J Med Genet A. 179(2): 150-158. doi: 10.1002/ajmg.a.61033
Basel-Vanagaite, L., et al. (2016). Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clin Genet. 89(5):557-63. doi: 10.1111/cge.12716.
Muenke, M., et al. (2016). An electronic atlas of human malformation syndromes in diverse populations. Genet Med. 18(11):1085-1087. doi: 10.1038/gim.2016.3.
Parenti, I., y Kaiser, F. (2021). Cornelia de Lange Syndrome as Paradigm of Chromatinopathies. Front Neurosci. doi: 10.3389/fnins.2021.774950.
Ran, Li., et al. (2021). A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review. Front Endocrinol (Lausanne). 12: 604500. doi: 10.3389/fendo.2021.604500.
Banerji, R., et al. (2017). Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome. Bio Open. 6(12): 1802-1813. doi: 10.1242/bio.026013.
Zhu, Z., et al. (2019). Roles of cohesin in chromosome architecture and gene expression. Semin Cell Dev Biol. 90:187-193. doi: 10.1016/j.semcdb.2018.08.004.
Di Muro, et al. (2021). Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. Genes (Basel). 23;12(8):1116. doi: 10.3390/genes12081116.
Clark, D., et al. (2012). Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A. 158A (8):1848-56. doi: 10.1002/ajmg.a.35410.
Chinen, Y., et al. (2019). A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Hum Genome Var. 13; 6:23. doi: 10.1038/s41439-019-0053-y.
Dorsett, D., y Krantz, I. (2009). On the Molecular Etiology of Cornelia de Lange Syndrome. Ann N Y Acad Sci. 1151:22-37 doi: 10.1111/j.1749-6632.2008.03450.x.
Luna, N., et al. (2019). The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes. Cell Death Dis. 10(8): 548. doi: 10.1038/s41419-019-1792-x.
Yuan, B., et al. (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 21(3): 663-675. doi: 10.1038/s41436-018-0085-6.
Li, Q., et al. (2020). Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome. Scientific reports. 10(1): 21224. doi:https://doi.org/10.1038/s41598-020-78205-5.
Meshram, G., et al. (2018). Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling. Medical archives (Sarajevo, Bosnia and Herzegovina). 72(4):297-299. doi:10.5455/medarh.2018.72.297-299.
Selicorni, A., et al. (2021). Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. Genes. 12(7):1075. doi: 10.3390/genes12071075.
Sharawat, I., y Dawman, L. (2018). Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country. Journal of pediatric neurosciences. 13(3): 334-336. doi: 10.4103/JPN.JPN_25_18.
Li, S., et al. (2020). A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort. Molecular genetics & genomic medicine. 8(2): E1225. doi: 10.1002/mgg3.1066.
Ayersa, A., et al. (2017). Cornelia de Lange syndrome: Congenital heart disease in 149 patients. Medicina clínica. 149(7): 300-302. doi: 10.1016/j.medcli.2017.03.051.
Rodríguez, P., y Asturias, K. (2020). A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. Case reports in pedriatics. doi: 10.1155/2020/6482938.
Grados, M., et al. (2017). Behavioral and Psychiatric Manifestations in Cornelia de Lange Syndrome (CdLS). Current opinion in psychiatry. 30(2): 92-96. doi: 10.1097/YCO.0000000000000311.
Nelson, L., et al. (2017). An experimental study of executive function and social impairment in Cornelia de Lange syndrome. Journal of Neurodevelopmental Disorders. 9(1):33. doi: 10.1186/s11689-017-9213-x.
Kline, A., et al. (2017). Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. American journal of medical genetics. Part A. 173(5): 1172-1185. doi: 10.1002/ajmg.a.38161.
Cascella, M., & Muzio, M. R. (2022). Cornelia de Lange Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan.
Pablo, MJ., et al. (2021). High rate of autonomic neuropathy in Cornelia de Lange Syndrome. Orphanet journal of rare diseases. 16(1):458. doi: 10.1186/s13023-021-02082-y.
Hei, M., et al. (2018). Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome. BMC Pediatrics, 18(1):64. doi: 10.1186/s12887-018-1004-3.
Mangelov, M., et al. (2020). Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report. Cureus. 12(8): e9767. doi: 10.7759/cureus.9767.
Panaitescu, AM., et al. (2021). A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation. Diagnostics (Basel, Switzerland). 11(1):142. doi: 10.3390/diagnostics11010142.
Kline, AD., et al. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature Reviews. Genetics. 19(10): 649-666. doi: 10.1038/s41576-018-0031-0.
Kinjo, T., et al. (2019). A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis. Case reports in obstetrics and gynecology. doi:10.1155/2019/4530491.
Avagliano, L., et al. (2017). Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? Birth Defects Research. 109(10): 771-777. doi: 10.1002/bdr2.1045.
Sarogni, P., et al. (2020). Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. Journal of Medical Genetics. 57(5): 289-295. doi: 10.1136/jmedgenet-2019-106277.
Deardorff, MA., et al. (2020). Cornelia de Lange Syndrome. (A. H. Adam MP, Ed.) GeneReviews®. Recuperado el 16 de Septiembre de 2005, de https://www.ncbi.nlm.nih.gov/books/NBK1104/.
Grazioli, P., et al. (2021). Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome. Cell death Discovery. 7(1):34. doi: 10.1038/s41420-021-00414-2.
Kline, AD., et al. (2019). Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018. American journal of medical genetics. Part A. 179(6): 1080-1090. doi: 10.1002/ajmg.a.61108.
Demir, S., et al. (2021). Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. Molecular Syndromology. 12(1): 46-51. doi:10.1159/000511971.
De Graaf, M., et al. (2017). Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. Journal of clinical research in pediatric endocrinology. 9(4): 366-370. doi: 10.4274/jcrpe.4349.
Cukrov, D., et al. (2018). Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. Human molecular genetics. 27(17): 3002-3011. doi: 10.1093/hmg/ddy203.
Mullin, S., et al. (2019). Neurological effects of glucocerebrosidase gene mutations. Eur J Neurol. 26(3):388-e29. doi: 10.1111/ene.13837.
Ferreira, C., y Gahl, W. (2017). Lysosomal storage diseases. Transl Sci Rare Dis. 2 (1-2):1-71. doi: 10.3233/TRD-160005.
Stirnemann, J., y Belmatoug, NC. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences. 18(2):441. doi:10.3390/ijms18020441.
Almeida-Calpe, A., et al. (2021). Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and the ABCB 1 transporter in Spanish patients affected by Gaucher disease. Chemico-biological interactions. 345. doi:10.1016/j.cbi.2021.109527.
Zimran, A., et al. (2018). Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). American Journal of Hematology. 93(2): 205-212. doi:10.1002/ajh.24957.
Drelichman, GI., et al. (2021). Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis. And Treatment of Gaucher Disease. Molecular genetics and metabolism reports. 29. doi:10.1016/j.ymgmr.2021.100820.
Schawartz, I., et al. (2017). Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. Molecular genetics and metabolism reports. 14: 73-79. doi:10.1016/j.ymgmr.2017.10.011.
Valdés-Díaz, K., et al. (2020). Gaucher disease. Presentation of a clinical case and literature review. Hematology, Transfusion and Cell Therapy. 44(1): 104-107. doi:10.1016/j.htct.2020.04.006.
D’Amore, S., et al. (2021). In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet Journal of Rare Diseases. 16(1):431. doi:10.1186/s13023-021-02034-6
Riboldi, GM., y Di Fonzo, AB. (2019). GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches. Cells. 8(4): 364. doi:10.3390/cells8040364
Motta, I., et al. (2021) Splenomegaly Gaucher group. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia. Sci Rep. 28;11(1):2594. doi: 10.1038/s41598-021-82296-z.
Andrade-Campos, et al. (2017). Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet journal of rare diseases. 12(1): 84. doi:10.1186/s13023-017-0627-z.
Chis BA, Chis AF, Dumitrascu DL. (2021) Gaucher disease - bone involvement. Med Pharm Rep. (Suppl No 1): S61-S63. doi: 10.15386/mpr-2233.
Bennett, LL., y Fellner, C. (2018). Pharmacotherapy of Gaucher Disease: Current and Future Options. P & T: a peer-reviewed journal for formulary management. 43(5): 274–309.
Somaraju, UR., y Tadepalli, K. (2017). Hematopoietic stem cell transplantation for Gaucher disease. The Cochrane database of systematic reviews. 10(10). doi:10.1002/14651858.CD006974.pub4.
Kartha, RV., et al. (2020). Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy. J Inherit Metab Dis. 43(3):564-573. doi: 10.1002/jimd.12182.
Adar, T., et al. (2018). Liver involvement in Gaucher disease - Review and clinical approach. Blood Cells Mol Dis. 68:66-73. doi: 10.1016/j.bcmd.2016.10.001.
Kannauje, PK., et al. (2021). Gaucher’s Disease in an Adult Female: A Rare Entity. Cureus. 13(8): e17318. doi: 10.7759/cureus.17318.
Stirnemann J, et al. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 18(2):441. doi: 10.3390/ijms18020441.
D’Amore, S., et al. (2021). In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet journal of rare diseases. 16(1): 431. doi:10.1186/s13023-021-02034-6.
Schiffmann, R., et al. (2020). The definition of neuronopathic Gaucher disease. Journal of inherited metabolic disease. 43(5): 1056–1059. doi:10.1002/jimd.12235.
Serratrice, C., et al. (2020). A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. Journal of clinical medicine. 9(8): 2343. doi:10.3390/jcm9082343.
Andrade-Campos, et al. (2018). The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises. Blood Cells, Molecules, and Diseases. 68: 126–134. doi: 10.1016/j.bcmd.2016.10.004.
Weinreb, NJ., et al. (2022) The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001.
Roshan Lal, T., et al. (2020). The natural history of type 2 Gaucher disease in the 21st century: A retrospective study. Neurology. 95(15): e2119–e2130. doi:10.1212/WNL.0000000000010605.
Schwartz, I., et al. (2017). Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. Molecular genetics and metabolism reports. 14: 73–79. doi:10.1016/j.ymgmr.2017.10.011.
Gary, SE., et al. (2018). Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab. 13(2):107-118. doi: 10.1080/17446651.2018.1445524.
Ramaswami, U., et al. (2021). Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma. Mol Genet Metab. 133(4):335-344. doi: 10.1016/j.ymgme.2021.06.009.
Daykin, EC., et al. (2021). Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Molecular genetics and metabolism. 132(2): 49–58. doi:10.1016/j.ymgme.2021.01.002.
Mistry, PK., et al. (2017). Gaucher disease: Progress and ongoing challenges. Molecular genetics and metabolism. 120(1-2): 8–21. doi:10.1016/j.ymgme.2016.11.006.
Potnis, KC., et al. (2018). Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum. Mol Genet Metab Rep. 17:69-72. doi: 10.1016/j.ymgmr.2018.10.001.
Zhang, W., et al. (2017). A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. Analyst. 142(18):3380-3387. doi: 10.1039/c7an00938k.
Stone, WL., et al. (2022) Gaucher Disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing;
Revel-Vilk, S., et al. (2021). Hematological manifestations and complications of Gaucher disease. Expert Rev Hematol. 14(4):347-354. doi: 10.1080/17474086.2021.1908120.
Biegstraaten, M., et al. (2018). Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis. 68:203-208. doi: 10.1016/j.bcmd.2016.10.008.
Yu, CY., et al. (2018). Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response. Journal of Rare Diseases Research & Treatment. 3(2): 7-16. doi:10.29245/2572-9411/2018/2.1148.
Yang, M. (2018). Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report. J Med Case Rep. 12(1):306. doi: 10.1186/s13256-018-1848-z.
Baldini, M., et al. (2018). Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density. Blood Cells, Molecules, and Diseases. 68: 148–152. doi: 10.1016/j.bcmd.2017.06.003.
Gupta, P., Pastores G. (2018). Pharmacological treatment of pediatric Gaucher disease. Expert Rev Clin Pharmacol. 11(12):1183-1194. doi: 10.1080/17512433.2018.1549486.
Zimran, A., et al. (2018). Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease. Orphanet J Rare Dis. 13(1):36. doi: 10.1186/s13023-018-0776-8.
Muñoz, G., et al. (2019). Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. JIMD Rep. 51(1):53-61. doi: 10.1002/jmd2.12078.
Benetó, N., et al. (2020). Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. Int J Mol Sci. 21(21):7819. doi: 10.3390/ijms21217819.
Nicoli, ER., et al. (2021). GM1 Gangliosidosis-A Mini-Review. Front Genet. 12:734878. doi: 10.3389/fgene.2021.734878.
Bajwa H, Azhar W. (2022). Niemann-Pick Disease. In: StatPearls [Internet]. PMID: 32310589.
Rozenfeld, PA., et al. (2020). Unraveling the mystery of Gaucher bone density pathophysiology. Molecular Genetics and Metabolism. 132(2):76-85. doi:10.1016/j.ymgme.2020.07.011.
Davidson, BA., et al. (2018). Explorando modificadores genéticos de la enfermedad de Gaucher: el próximo horizonte. Mutación humana. 39(12): 1739–1751. doi:10.1002/humu.23611.
Ntanasis-Stathopoulos, I., et al. (2021). Screening for Gaucher disease among patients with plasma cell dyscrasias. Leuk Lymphoma. 62(3):761-763. doi: 10.1080/10428194.2019.1672059.
Serratrice, C., et al. (2019). Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases. J Clin Med. 8(2):219. doi: 10.3390/jcm8020219.
Kundu, S., et al. (2021). Restrictive cardiomyopathy: A rare presentation of gaucher disease. Ann Afr Med. 20(2):138-140. doi: 10.4103/aam.aam_64_18.
Mistry, P, et al. (2020). Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mol Genet Metab. 130(3):164-169. doi: 10.1016/j.ymgme.2020.05.002.
Kumar, P., et al. (2017). Microphthalmia with linear skin defects (MLS) syndrome: familial presentation. Clinical and Experimental Dermatology, 43(2): 196–197. doi:10.1111/ced.13298.
Vendramini-Pittoli, S., et al. (2020). Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2. Journal of Pediatric Genetics. 9(4):258-262. doi:10.1055/s-0039-3402047.
Indrieri, A., et al. (2021). Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder. Genes. 12: 263. doi:10.3390/genes12020263.
LaCour, M., et al. (2019). Geometric Facial Erosions on a Newborn. SKIN. The Journal of Cutaneous Medicine. 3(2): 98–101. doi:10.25251/skin.3.2.43.
Asadi, S., et al. (2018). Microphthalmia with Linear Skin Defects Syndrome. Eye and Vision Science. 1(2): 001-003.
Prepeluh, N., et al. (2018). A mosaic form of microphthalmia with linear skin defects. BMC Pediatrics. 18: 254. doi:10.1186/s12887-018-1234-4.
Morleo, M, et al. (2018). Microphthalmia with Linear Skin Defects Syndrome. GeneReviews. URL: https://www.ncbi.nlm.nih.gov/books/NBK7041/#microph-lsd.Minor_Criteria_in__70_of_aff
Garrison, P., et al. (2016). MLS Syndrome. Consultant 360 Multidisciplinary Medical Information Network. 15: 11. URL: https://www.consultant360.com/articles/mls-syndrome
Durack, A., et al. (2017). Linear skin defects and microphthalmia. Clinical and Experimental Dermatology. 43: 860–862. doi: 10.1111/ced.13638.
Van Rahden, V., et al. (2014). Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Orphanet Journal of Rare Diseases. 9(1): 53. doi:10.1186/1750-1172-9-53.
Rea, G., et al. (2017). Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. Cold Spring Harb Molecular Case Studies. 3: a001271. doi:10.1101/mcs.a001271.
Peirats, J., et al. (2015). Caracterización, evaluación y diseño de intervención en una niña afectada por el síndrome de MIDAS. ENSAYOS. Revista de la Facultad de Educación de Albacete. 30(1): 143‐160. URL: http://www.revista.uclm.es/index.php/ensayos
Plaisancie, J., et al. (2016). Genetic Advances in Microphthalmia. Journal of Pediatric Genetics. 05(04): 184–188. doi:10.1055/s-0036-1592350.
Banganho, D, et al. (2019). Microphthalmia with linear skin defects syndrome (MIDAS). BMJ Case Reports. 12: e227791. doi:10.1136/bcr-2018-227791.
Larangeira, H., et al. (2014). Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome. Anais Brasileiros de Dermatologia. 89(1). doi: 10.1590/abd1806-4841.20142240.
Bermejo, R., et al. (2013). Síndrome de MIDAS: diagnóstico posnatal tras detectar en el feto un retraso del crecimiento intrauterino. Diagnóstico Prenatal. 24(2):73–77. doi: 10.1016/j.diapre.2012.07.002.
Nakatsuka, A., et al. (2020). Peter’s anomaly with microphthalmia and linear skin defects. Clinical Ophthalmology Resource for Education.
Van Rahden, et al. (2015). Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome. The American Journal of Human Genetics. 96(4): 640-650. doi:10.1016/j.ajhg.2015.02.002.
Couser, N. (2019). Ophthalmic Genetic Diseases: A quick reference guide to the eye and external ocular adnexa abnormalities. Elsevier. St. Louis.
Couser, N., et al. (2017). Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genetics. 38(5): 401–412. doi:10.1080/13816810.2016.124745.
Satcher, K., et al. (2019). Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis. Pediatric Dermatology. 37(1):217-218. doi:10.1111/pde.13946.
Torraco, A., et al. (2016). A novel mutation inNDUFB11unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clinical Genetics. 91(3): 441–447. doi:10.1111/cge.12790.
Migeon, B. (2020). X-linked diseases: susceptible females. Genetics in Medicine. 22(7):1156-1174. doi:10.1038/s41436-020-0779-4.
Lenormand, C., et al. (2018). Mosaicismo. EMC – Dermatología. 52(2): 1–11. doi:10.1016/s1761-2896(18)90895-2.
Slavotinek, A. (2018). Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia. Human Genetics. 138:831–846. doi:10.1007/s00439-018-1949-1.
Dyall-Smith, D. (2011). Microphthalmia with linear skin defects syndrome |.
Prakash, SK., et al. (2002). Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Human molecular genetics, 11(25): 3237–3248. doi:10.1093/hmg/11.25.3237.
Wimplinger, I., et al. (2006). Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. American journal of human genetics, 79(5): 878–889. doi:10.1086/508474.
Paul, L., et al. (2007). Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity. Nature Reviews Neuroscience. 8(4):287-299. doi: 10.1038/nrn2107.
Thompson, AC., et al. (2017). Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. Journal of Glaucoma. 27(1):e7-e10. doi:10.1097/ijg.0000000000000812.
Wimplinger, I., et al. (2007). Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. European journal of medical genetics. 50(6): 421–431. doi:10.1016/j.ejmg.2007.07.004.
Sharma, VM., et al. (2008). Microphthalmia with linear skin defects: a case report and review. Pediatric dermatology. 25(5): 548–552. doi:10.1111/j.1525-1470.2008.00724.x.
Hobson, GM., et al. (2009). A large X-chromosomal bdeletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). American journal of medical genetics. Part A. 149A(8): 1698–1705. doi:10.1002/ajmg.a.32968.
Harding, P., et al. (2020). Anophthalmia including next-generation sequencing-based approaches. European journal of human genetics: EJHG. 28(3): 388–398. doi:10.1038/s41431-019-0479-1.
Kayserili, H., et al. (2001). Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). Journal of Medical Genetics. 38(6):411-417. doi: 10.1136/jmg.38.6.411.
Cape, CJ., et al. (2004). Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea). Arch Ophthalmol. 122(7):1070–1074. doi:10.1001/archopht.122.7.1070.
Cluver, C., et al. (2015). Interventions for helping to turn term breech babies to head first presentation when using external cephalic version. Cochrane Database of Systematic Reviews. (2): CD000184. doi: 10.1002/14651858.CD000184.pub4.
Diplomado en Ultrasonografía Médica. (7 de Febrero de 2019). Retraso del crecimiento intruterino.
Rodríguez, R., y Suescún, G. (2013). Aplicaciones e inconvenientes de la técnica Hibridación in situ Fluorescente (FISH) en la identificación de microorganismos. Salud Uninorte, http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-55522013000200017#:~:text=FISH%20o%20Hibridaci%C3%B3n%20in%20situ,observada%20por%20medio%20de%20un.
Natario, L., et al. (2017). Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genetics. 5: 401-412. doi: 10.1080/13816810.2016.1247459.
Cheng, H., et al. (2019). Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human molecular genetics. 28(17): 2900–2919. doi:10.1093/hmg/ddz111.
Harmsen, MB., et al. (2009). Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European journal of human genetics: EJHG. 17(10): 1207–1215. doi:10.1038/ejhg.2009.40.
Indrieri, A., et al. (2012). Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. American journal of human genetics. 91(5): 942–949. doi:10.1016/j.ajhg.2012.09.016.
Weston, W., y Morelli, J. (2007). Color Textbook of Pediatric Dermatology. Mosby.
Ogata, T., et al. (1998). Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. Human genetics, 103(1): 51–56. doi:10.1007/s004390050782.
Bartoš, V., et al. (2019). Gorlin-Goltz syndrome. Gorlinov-Goltzov syndróm. Klinicka onkologie: casopis Ceske a Slovenske onkologicke spolecnosti. 32(2): 124–128. doi:10.14735/amko2019124.
Vetró, É., et al. (2020). A Gorlin-Goltz-szindróma genetikai aspektusai [Genetic aspects of Gorlin-Goltz syndrome]. Orvosi hetilap, 161(49), 2072–2077. doi:10.1556/650.2020.31933.
Singh, RK., et al. (2021). Gorlin-Goltz syndrome without cutaneous manifestations. The Pan African medical journal. 39: 239. doi:10.11604/pamj.2021.39.239.30886.
Miraglia, E., et al. (2021). Electrochemotherapy in Gorlin-Goltz syndrome. Italian journal of dermatology and venereology, 156(1-6): 95–97. doi:10.23736/S2784-8671.20.06474-3.
Şereflican, B., et al. (2017). Gorlin-Goltz syndrome. Turk pediatri arsivi. 52(3): 173–177. doi: 10.5152/TurkPediatriArs.2017.2992.
Geisler, EL., et al. (2021). Progressive Postnatal Pansynostosis in Crouzon Syndrome. Journal of Craniofacial Surgery. 32(1):62-64. doi: 10.1097/SCS.0000000000006931.
Al-Namnam, NM., et al. (2019). Crouzon syndrome: Genetic and intervention review. Journal of Oral Biology and Craniofacial. 9(1):37-39. doi: 10.1016/j.jobcr.2018.08.007.
Tripathi, T., et al. (2022). Comprehensive management of Crouzon síndrome: A case report with three year follow up. Journal of Orthodondontics. 49(1):71-78. doi: 10.1177/14653125211019412.
Arámbula, JG. (2022). Computed tomography findings of Crouzon syndrome: A case report. Radiology Case Reports. 17(4):1288-1292. doi: 10.1016/j.radcr.2022.01.060.
Betances EM, Mendez MD, M Das J. Craniosynostosis. [Updated 2022 Mar 15]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-.
Robin N. et al. (2019). Crouzon Syndrome. Rare Disease Database.
Genetics of Crouzon syndrome clinical presentation [Internet]. Medscape.com. 2022 [citado el 30 de junio de 2022]. Disponible en: https://emedicine.medscape.com/article/942989-clinical
Conrady CD, Patel BC. Crouzon Syndrome. [Updated 2021 Nov 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-.
Causes and Symptoms of Syndromic Craniosynostosis such as Crouzon Syndrome and Apert Syndrome [Internet]. Kanagawa-pho.jp. [citado el 30 de junio de 2022]. Disponible en: http://kcmc.kanagawa-pho.jp/department/crouzon-en.html
Lounge, et al. (2019). Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. Biomedical Reports. 10(2):107-112. doi: 10.3892/br.2019.1181.
Crouzon syndrome [Internet]. Medscape.com. 2021 [citado el 30 de junio de 2022]. Disponible en: https://emedicine.medscape.com/article/1117749-overview
Crouzon syndrome [Internet]. Ajnr.org. [citado el 30 de junio de 2022]. Disponible en: http://www.ajnr.org/ajnr-case-collections-diagnosis/crouzon-syndrome
Kalanjiam, V., et al. (2017). Crouzon syndrome – A rare case report. International Journal of Health Sciences.11(4):74-75.
Demke, J., et al. (2021). Craneofacial Surgery for Congenital and Acquired Deformities. Cummings Pediatric Otolaryngology. 6(2):77-104. doi: 10.1016/B978-0-323-69618-0.00006-8.
Singh, G., et al. (2018). Crouzon syndrome: a case report. International Journal of Contemporary Pediatrics. 5(1):260-261. doi: 10.18203/2349-3291.ijcp20175597.
Neira, JG., et al. (2022). Computed tomography findings of Crouzon syndrome: A case report. Radiology Case Reports. 17(4):1288-92. doi: 10.1016/j.radcr.2022.01.060.
Anderson A. What is Crouzon syndrome? [Internet]. WebMD. [citado el 30 de junio de 2022]. Disponible en: https://www.webmd.com/children/what-is-crouzon-syndrome
Burgess L. Crouzon syndrome: Symptoms, treatment, and outlook [Internet]. Medicalnewstoday.com. 2018 [citado el 30 de junio de 2022]. Disponible en: https://www.medicalnewstoday.com/articles/321605
Crouzon syndrome [Internet]. Childrenshospital.org. [citado el 30 de junio de 2022]. Disponible en: https://www.childrenshospital.org/conditions/crouzon-syndrome
Wenger TL, Hing AV, Evans KN. Apert Syndrome. 2019 May 30. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Beare-Stevenson cutis gyrata syndrome - About the Disease - Genetic and Rare Diseases Information Center [Internet]. Nih.gov. [citado el 30 de junio de 2022]. Disponible en: https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome
Porntaveetus, T., et al. (2018). Cole‐Carpenter syndrome in a patient from Thailand. American Journal of Medical Genetics Part A. 176(8):1706-1710. doi: 10.1002/ajmg.a.40358
Xu, W., et al. (2017). Crouzon with acanthosis nigricans and odontogenic tumors: a rare form of syndromic craniosynostosis. The Cleft Palate-Craniofacial Journal. 55(2):296-300. doi: 10.1177/1055665617723918.
Genetics of Crouzon syndrome differential diagnoses [Internet]. Medscape.com. 2022. Disponible en: https://emedicine.medscape.com/article/942989-differential
Ferri B. Crouzon syndrome: Symptoms, causes, diagnosis, & treatment [Internet]. Verywell Health. 2019. Disponible en: https://www.verywellhealth.com/crouzon-syndrome-4707073
Crouzon syndrome causes, symptoms and Crouzon syndrome treatment [Internet]. Health Jade. 2018 [citado el 30 de junio de 2022]. Disponible en: https://healthjade.net/crouzon-syndrome/
The Children’s Hospital of Philadelphia. Crouzon syndrome [Internet]. Chop.edu. 2014 [citado el 30 de junio de 2022]. Disponible en: https://www.chop.edu/conditions-diseases/crouzon-syndrome
Balyen, L., et al. (2017). Clinical characteristics of Crouzon syndrome. Oman Journal of Ophthalmology. 10(2):120-122. doi: 10.4103/0974-620X.209111.
Jacinta, AC., et al. (2018). Crouzon´s syndrome: A case report and review. Journal of Oral Research and Review. 10(2):87-91. doi: 10.4103/jorr.jorr_14_18.
Watson S. Crouzon syndrome [Internet]. Healthline. 2017 [citado el 30 de junio de 2022]. Disponible en: https://www.healthline.com/health/crouzon-syndrome
Helman, SN., et al. (2014). Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. Oral and Maxillofacial Surgery. 18(4):373-9. doi: 10.1007/s10006-014-0467-0.
Gothwal, S., et al. (2014). Crouzon syndrome with bony upper airway obstruction: case report and review literature. Fetal and Pediatric Pathology. 33(4):199-201. doi: 10.3109/15513815.2014.913747.
Giordano, BP., et al. (2016). Crouzon Syndrome: Visual Diagnosis. Journal of Pediatric Health Care. 30(3):270-3. doi: 10.1016/j.pedhc.2015.07.007.
Torun, GS., Akbulut, A. (2017). Crouzon syndrome with multiple supernumerary teeth. Nigerian Journal of Clinical Practice. 20(2):261-263. doi: 10.4103/1119-3077.187332.
Elmi, P. (2015). Mandibular asymmetry in patients with the crouzon or apert syndrome. The Cleft Palate-Craniofacial Journal. 52(3):327-35. doi: 10.1597/13-143.
Reitsma, JH., et al. (2014) Dental maturation in children with the syndrome of crouzon and apert. The Cleft Palate-Craniofacial Journal. 51(6):639-44. doi: 10.1597/13-071.
Mir, A., et al. (2013). Cutaneous features of Crouzon syndrome with acanthosis nigricans. JAMA Dermatology. 149(6):737-41. doi: 10.1001/jamadermatol.2013.3019.
Li, J., Li, S. (2016). The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. Journal of Craniofacial Surgery. 27(5):1244-6. doi: 10.1097/SCS.0000000000002732.
Staal, FC., et al. (2015). Describing Crouzon and Pfeiffer syndrome based on principal component analysis. Journal of Craniomaxillofacial Surgery. 43(4):528-36. doi: 10.1016/j.jcms.2015.02.005.
Weiss, AH., et al. (2014). Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. Investigative Ophthalmology & Visual Science. 15;55(1):310-7. doi: 10.1167/iovs.13-13069.
Pachajoa, H., Rodríguez, CA. (2012). Crouzon syndrome in pre-Hispanic populations in South America?. Archivos de la Sociedad Española de Oftalmología. 87(5):161-2. doi: 10.1016/j.oftal.2012.01.009.
Khominsky, A., et al. (2018). Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. Archives of Oral Biology. 86:123-130. doi: 10.1016/j.archoralbio.2017.10.022.
Coll, G., et al. (2018). Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. World Neurosurgery. 109:e460-e467. doi: 10.1016/j.wneu.2017.09.208.
Imai, K. (2013). Preoperative and postoperative orbital volume in patients with Crouzon and Apert syndrome. Journal of Craniofacial Surgery. 24(1):191-4. doi: 10.1097/SCS.0b013e3182668581.
Coll, G. (2012). The growth of the foramen magnum in Crouzon syndrome. Child’s Nervous System. 28(9):1525-35. doi: 10.1007/s00381-012-1805-x.
Vidal, SR. (2012). Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR. Anales de Pediatría. 77(4):272-8. doi: 10.1016/j.anpedi.2012.03.024.
Hariri, F., et al. (2018). Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. Journal of Oral Maxillofacial Surgery. 76(3):646.e1-646.e12. doi: 10.1016/j.joms.2017.11.029.
Sastre-Ibáñez, M., et al. (2015). Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. Journal Français d’Ophtalmologie. 38(8):e177-8. doi: 10.1016/j.jfo.2014.11.019.
Mohan, RS., et al. (2012). Crouzon syndrome: clinico-radiological illustration of a case. Journal of Clinical Imaging Science. 2:70. doi: 10.4103/2156-7514.104303.
Di Rocco., et al. (2011). Crouzon syndrome with acanthosis nigricans: a case-based update. Child’s Nervous System. 27(3):349-54. doi: 10.1007/s00381-010-1347-z.
Peña, C., et al. (2021). Síndrome de Proteus y embarazo. Reporte de un caso. Ginecología y Obstetricia de México. 89 (2): 151-159. doi:10.24245/gom. v89i2.4307.
He, M., et al. (2020). Proteus syndrome of the foot: A case report and literature review. Experimental And Therapeutic Medicine. 20(3):2716-2720. doi: 10.3892/etm.2020.8986.
Vestita, M., et al. (2018). Case Report: “Incognito” proteus syndrome [version 1; peer review: 2 approved]. F1000Research. 7:228. doi:10.12688/f1000research.13993.
Carino da Silva, L., et al. (2019). Síndrome de Proteus: Um Panorama Geral. Revista Interdisciplinar do Pensamento Científico. 5(5). doi:10.20951/2446-6778/v5n5a142.
Buser, A., et al. (2020). Allelic heterogeneity of Proteus syndrome. Cold Spring Harbor Molecular Case Studies. 6(3): a005181. doi:10.1101/mcs.a005181.
AlAnzi, T., et al. (2021). Proteus syndrome caused by novel somatic AKT1 duplication. Saudi Medical Journal. 42(1): 95–99. doi:10.15537/smj.2021.1.25618.
Ou, M., et al. (2017). Proteus syndrome: A case report and review of the literature. Molecular and Clinical Oncology. 6(3): 381–383. doi:10.3892/mco.2017.1140
Amer, N., et al. (2020). Proteus Syndrome, a rare case with an unusual presentation: Case report. International Journal of Surgery Case Reports. 72: 339-342. doi:10.1016/j.ijscr.2020.06.052.
Mirmomen, SM., et al. (2021). Cardiothoracic imaging findings of Proteus syndrome. Scientific Reports. 11,1 6577. doi:10.1038/s41598-021-86029-0
Lindhurst, MJ., et al. (2015) Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome. Scientific Reports. 5: 17162. doi:10.1038/srep17162.
Friedrich, R., et al. (2021). Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings. In vivo. 35(3): 1583–1594. doi:10.21873/invivo.12415.
Duarte, C., et al. (2021). Proteus Syndrome: A Rare Case in An Adult Ward. European Journal of Case Reports in Internal medicine. 8(4): 002554. doi:10.12890/2021_002554.
Amer, N., et al. (2020). Proteus Syndrome, a rare case with an unusual presentation: Case report. International journal of surgery case reports. 72: 339-342. doi:10.1016/j.ijscr.2020.06.052.
Biesecker, LG., Sapp JC. Proteus Syndrome. 2012 Aug 9 [Updated 2019 Jan 10]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Nathan, N., et al. (2018). Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome. Journal of the American Academy of Dermatology. 4: 725-732. doi:10.1016/j.jaad.2017.10.018.
Pithadia, D., et al. (2021). Dermatologic findings in individuals with genetically confirmed Proteus syndrome. Pediatric Dermatology. 38(4): 794–799. doi:10.1111/pde.14624.
Garcias-Ladaria, J., et al. (2018). Nevus epidérmicos y síndromes relacionados. Parte 1: nevus queratinocíticos. Actas Dermo-Sifiliográficas. 109(8): 677-686. doi:10.1016/j.ad.2018.05.005.
Pithadia, D., et al. (2021). Hypertrichotic patches as a mosaic manifestation of Proteus syndrome. Journal of the American Academy of Dermatology. 2: 415-424. doi:10.1016/j.jaad.2020.01.078.
Asilian, A., et al. (2017). Proteus Syndrome with Arteriovenous Malformation. Advanced Biomedical Research. 6:27. doi:10.4103/2277-9175.201684.
Munhoz, L., et al. (2019). Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report. Oral Radiology. 37(1):2-12. doi:10.1007/s11282-019-00416-y.
Takyar, V., et al. (2018). Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome. American Journal of Nedical Genetics. Part A. 176(12): 2677–2684. doi.org/10.1002/ajmg.a.40636.
Abouzeid, B., et al. (2021). A rare gynecologic presentation of proteus syndrome: A case report. Case Reports in Women’s Health. 33: e00373. doi:10.1016/j.crwh.2021.e00373.
Sapp, J., et al. (2019). A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American journal of medical genetics. Part C. Seminars in medical genetics. 4: 565-570. doi:10.1002/ajmg.c.31744.
Ours, C., et al. (2022). Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome. Orphanet Journal of Rare Diseases. 17:173. doi:10.1186/s13023-022-02325-6.
Fogarty, L., et al. (2018). Prenatal diagnosis of a fetus with Proteus syndrome. Prenatal Diagnosis. 38(6): 467–470. doi:10.1002/pd.5252.
Abell, K., et al. (2020). Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth Defects Research. 112(19):1733-1737. doi:10.1002/bdr2.1801.
Zeng, X., et al. (2020). A case report of Proteus syndrome (PS). BMC Medical Genetics. 21(1): 15. doi:10.1186/s12881-020-0949-x.
Biesecker, L., et al. (2020). Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092). Cold Spring Harbor molecular case studies. 6: a004549. doi:10.1101/mcs.a004549.
Keppler-Noreuil, K., et al. (2019). Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome. The American Journal of Human Genetics. 104(3):484-491. doi:10.1016/j.ajhg.2019.01.015
Leoni, C., et al. (2019). First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma. American Journal of Medical Genetics A. 179(7):1319-1324. doi: 10.1002/ajmg.a.61160.
Crenshaw, M., et al. (2018). Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome. Journal of Pediatric Orthopaedics. 38(3): e138–e144. doi:10.1097/bpo.0000000000001121.
Ours, C., et al. (2020). Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19. American journal of medical genetics. Part A. 182(12): 2829–2831. doi:10.1002/ajmg.a.61861.
Rocha, R., et al. (2017). Proteus syndrome. Anais brasileiros de dermatología. 92(5): 717–720. doi:10.1590/abd1806-4841.20174496.
Abu-Shaban, K., et al. (2022). Proteus-Like Syndrome: A Rare Phenotype of Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome. The Cureus Journal of Medical Science. 14(4): e24135. doi:10.7759/cureus.24135.
De Grazia, R., et al. (2019). CLOVES Syndrome: Treatment with oral Rapamycin. Report of two cases. Revista chilena de pediatría. 90(6): 662-667. doi:10.32641/rchped.v90i6.1025.
Sapp, JC., et al. Quantifying survival in patients with Proteus syndrome. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 19(12):1376-1379. doi.10.1038/gim.2017.65.
Mirmomen, S., et al. (2021). Cardiothoracic imaging findings of Proteus syndrome. Scientific Reports. 1: 6577. doi:10.1038/s41598-021-86029-0.
Keppler‐Noreuil, K., et al. (2019). Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181(4):571-581. doi:10.1002/ajmg.c.31735.
Sachdeva, P., et al. (2017). Proteus Syndrome with Neurological Manifestations: A Rare Presentation. Journal of pediatric neurosciences. 12(1), 109–111. doi:10.4103/jpn.JPN_139_16.
Marmoy, O., et al. (2021). Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome. Doc Ophthalmol. 142(1):119-126. doi: 10.1007/s10633-020-09778-9.
Cohen, M. (2014). Proteus syndrome review: molecular, clinical, and pathologic features. Clinical Genetics. 85(2):111-9. doi:10.1111/cge.12266.
Abbo, O., et al. (2012). Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria. Proges en Urologie. 22(2):132-5. doi: 10.1016/j.purol.2011.07.011.
Agarwal, R., et al. (2015). Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. Discovery Medicine. 19(103):109-16.
Alves, C., et al. (2013). Proteus syndrome: Clinical diagnosis of a series of cases. Indian Journal of Endocrinology and Metabolism. 17(6):1053-6. doi: 10.4103/2230-8210.122621.
Sakamoto, Y., et al. (2010). Management of craniofacial hyperostosis in Proteus syndrome. Journal of Craniofacial Surgery. 21(2):414-8. doi: 10.1097/SCS.0b013e3181cfa7f0.
Angurana, SK., Angurana, RS. (2014). Proteus syndrome: More vigilance needed to diagnose it. Indian Journal of Endocrinology Metabolism. 18(3):429-30. doi: 10.4103/2230-8210.131225.
Gandhi, NM., et al. (2015). Radiographic findings of Proteus Syndrome. Radiology Case Reports. 9(2):911. doi: 10.2484/rcr.v9i2.911.
Angurana, SK., et al. (2013). Proteus syndrome: Clinical profile of six patients and review of literature. Indian Journal of Human Genetic. 19(2):202-6. doi: 10.4103/0971-6866.116117.
Sarman, ZS., et al. (2014). Proteus syndrome: report of a case with developmental glaucoma. Korean Journal of Ophthalmology. 28(3):272-4. doi: 10.3341/kjo.2014.28.3.272.
El-Sobky, TA., et al. (2015). Orthopaedic manifestations of Proteus syndrome in a child with literature update. Bone Reports. 3:104-108. doi: 10.1016/j.bonr.2015.09.004.
Maheesh, N., et al. (2018). Seckel syndrome: A case report of the rare Syndrome. Journal of Dr. NTR University of Health Sciences. 7(3):223-227. doi: 10.4103/JDRNTRUHS.JDRNTRUHS_100_14.
Ichima, J., et al. (2019). Verification and rectification of cell type- specific splicing of a Seckel Syndrome- associated ATR mutation using iPS cell model. Journal of Human Genetics. 64(5); 445-458. doi: 10.1038/s10038-019-0574-8.
Khojah, O., et al. (2021). Central nervous system vasculopathy and Seckel syndrome: case illustration and
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septiembre 28, 2023
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Derechos de autor 2023 Cristhian Rubén Vallejo Zambrano, Clelia Celeste Ricaurte Jijón, Cesar Iván Álava Álava, Ricardo Aspren Jiménez Jiménez, Libeth Larrea Ricaurte, Vanessa Estefanía Morán Rodríguez, Diana Monserrate Briones Cevallos, Daniela Estefanía Guzmán Andocilla, Jonathan Isaías Mendoza Loor, Johan Zambrano Zambrano
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978-9942-622-64-8
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10.26820/978-9942-622-64-8
