Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays

Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly....

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Detalles Bibliográficos
Autores principales: Coupe, Simone, Hertzog, Ashley, Foran, Carolyn, Tolun, Adviye Ayper, Suthern, Megan, Chung, Clara W. T., Ellaway, Carolyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939576/
https://www.ncbi.nlm.nih.gov/pubmed/36814711
http://dx.doi.org/10.1002/ccr3.6920
Descripción
Sumario:Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.

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