Smith-Lemli-Opitz syndrome: case report and literature review.
The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. Intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the form of the Smith-Lemli-Opitz-syndrome, a rare congenital defect. The clinical course of this case is compared with similar cases in the literature.
Danzer
E
E
Department of Pediatric Surgery, University Medical Center Jena, Jena, Germany.
Schier
F
F
Giggel
S
S
Bondartschuk
M
M
D006801:Humans; D007223:Infant; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000601:surgery