Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.
7‐Dehydrocholesterol
biochemical genetics
diagnosis
metabolism
smith–lemli–opitz syndrome
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
24
06
2022
revised:
10
10
2022
accepted:
28
12
2022
entrez:
23
2
2023
pubmed:
24
2
2023
medline:
24
2
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36814711
doi: 10.1002/ccr3.6920
pii: CCR36920
pmc: PMC9939576
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e6920Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
No authors have any conflicts of interest to disclose.
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