时刻警惕：史密斯-勒米-奥皮茨综合征是一种容易被忽视的发育迟缓病因。
Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.
作者信息
Coupe Simone, Hertzog Ashley, Foran Carolyn, Tolun Adviye Ayper, Suthern Megan, Chung Clara W T, Ellaway Carolyn
机构信息
NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
出版信息
Clin Case Rep. 2023 Feb 19;11(2):e6920. doi: 10.1002/ccr3.6920. eCollection 2023 Feb.
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.
史密斯-勒米-奥皮茨综合征（SLOS）是发育迟缓相对常见的遗传病因，可能仅在并指（趾）畸形合并第2、3趾时出现。本病例系列展示了SLOS的一种较轻型表型，其主要表现为在存在第2、3趾并指（趾）畸形时出现神经认知方面的问题。
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