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

Simone Coupe; Ashley Hertzog; Carolyn Foran; Adviye Ayper Tolun; Megan Suthern; Clara W T Chung; Carolyn Ellaway

doi:10.1002/ccr3.6920

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

Clin Case Rep. 2023 Feb 19;11(2):e6920. doi: 10.1002/ccr3.6920. eCollection 2023 Feb.

Authors

Simone Coupe¹, Ashley Hertzog^{1

2}, Carolyn Foran¹, Adviye Ayper Tolun^{1

2}, Megan Suthern^{3

4}, Clara W T Chung^{5

6}, Carolyn Ellaway^{2

7}

Affiliations

¹ NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
² Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
³ Paediatric Department Wagga Wagga Base Hospital Wagga Wagga New South Wales Australia.
⁴ Rural Clinical School, Faculty of Medicine and Health University of New South Wales Wagga Wagga New South Wales Australia.
⁵ Department of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia.
⁶ School of Women's and Children's Health University of New South Wales Sydney New South Wales Australia.
⁷ Genetic Metabolic Disorders Service The Children's Hospital at Westmead Westmead New South Wales Australia.

Abstract

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.

Keywords: 7‐Dehydrocholesterol; biochemical genetics; diagnosis; metabolism; smith–lemli–opitz syndrome.

Publication types

Case Reports