Two cases of severe lethal Smith-Lemli-Opitz syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002386:Cataract / Q000151:congenital / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008168:Lung / Q000002:abnormalities; D008297:Male; D013577:Syndrome