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
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author Coupe, Simone
Hertzog, Ashley
Foran, Carolyn
Tolun, Adviye Ayper
Suthern, Megan
Chung, Clara W. T.
Ellaway, Carolyn
author_facet Coupe, Simone
Hertzog, Ashley
Foran, Carolyn
Tolun, Adviye Ayper
Suthern, Megan
Chung, Clara W. T.
Ellaway, Carolyn
author_sort Coupe, Simone
collection PubMed
description 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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spelling pubmed-99395762023-02-21 Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays Coupe, Simone Hertzog, Ashley Foran, Carolyn Tolun, Adviye Ayper Suthern, Megan Chung, Clara W. T. Ellaway, Carolyn Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-02-19 /pmc/articles/PMC9939576/ /pubmed/36814711 http://dx.doi.org/10.1002/ccr3.6920 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Coupe, Simone
Hertzog, Ashley
Foran, Carolyn
Tolun, Adviye Ayper
Suthern, Megan
Chung, Clara W. T.
Ellaway, Carolyn
Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title_full Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title_fullStr Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title_full_unstemmed Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title_short Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
title_sort keeping you on your toes: smith–lemli–opitz syndrome is an easily missed cause of developmental delays
topic Case Report
url 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
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