One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
A male child with a lethal multiple congenital anomaly syndrome of facial dysmorphism, ambiguous genitalia, syndactyly and postaxial polydactyly is presented. He had findings consistent with the diagnosis of Smith-Lemli-Opitz type II syndrome. Similar changes were observed in his elder sister, who died when she was 2 months old. On the basis of this familial observation the nosology of Smith-Lemli-Opitz syndrome is discussed.
Krajewska-Walasek
M
M
Department of Genetics, Child Health Center-Memorial Hospital, Warsaw, Poland.
D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism; D005146:Facial Asymmetry / Q000151:congenital*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008297:Male; D012801:Sibling Relations; D012868:Skin Abnormalities