Smith-Lemli-Opitz syndrome. Case report.

The purpose of this paper is to describe one more case which, in addition, presented evidence of anomalous brain structure and abnormal carbohydrate metabolism. Case ReportThis 5X-year-old Caucasian boy (Fig. 1) was the first- born child of a 19-year-old mother and a 21-year-old father.The parents were not related and there was no family history of congenital anomalies or known hereditary diseases.A 2-year-old female sib is normal except for a 'pigeon-toe' deformity.Pregnancy.The mother had diathermy treatments to the back during the first two months.She was immunized with a smallpox vaccination and typhoid injections between the third and fourth month, and was admitted to hospital because of hypertension during the last month.The weight gain was 8 -2 kg.(18 lb.) during the gestation of 43 weeks.The child was born by normal delivery.The birth length was 50 cm., with a birthweight of 2330 g.