Smith-Lemli-Opitz

At term, these should suggest the diagnosis of Type I SLO: microcephaly, 2-3 syndactyly of toes, small proximally placed thumbs, cataracts. Males have hypospadias and a hypoplastic scrotum

Type II SLO is a severe lethal form. In males, the external genitalia can be ambiguous or female. Multiple skeletal anomalies, GU, GI, CNS, endocrine abnormalities as well.

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes