1.
Clin Case Rep
; 11(2): e6920, 2023 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36814711
RESUMO
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.