Author： Witters Ingrid Moerman Philippe Cannie Mieke Catte Luc De Fryns Jean-Pierre
Publisher： Maney Publishing
ISSN： 1743-1344
Source： Ultrasound, Vol.16, Iss.4, 2008-11, pp. : 208-210
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Abstract
Smith–Lemli–Opitz (SLO) syndrome is an autosomal recessive multiple congenital malformation syndrome due to mutations in the 7-DHCR gene. The presented boy was diagnosed prenatally with multiple congenital malformations and confirmed as SLO by autopsy and molecular diagnosis. Interestingly in this boy prenatal MRI revealed a dilated duodenum, pointing towards intestinal dysmotility which is common in SLO.
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