Bony syndactyly associated with Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous syndactyly. It is caused by mutations in the DHCR7 gene. In an international collaborative investigation of two affected fetuses, researchers of the Institute of Human Genetics Göttingen identified a novel DHCR7 mutation and extended the clinical spectrum of Smith-Lemli-Opitz syndrome by showing that affected individuals may also present with bony syndactyly.

The results of their study have now been published in Clinical Genetics.

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum
Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I
Clin Genet. 2017 Mar 30. doi: 10.1111/cge.12990. [Epub ahead of print]

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