ISSN : 2146-3123
E-ISSN : 2146-3131

Smith-Lemli-Opitz syndrome: A Case Report
Ülfet Vatansever 1, Rıdvan Duran 1, Behzat Telören 1, Betül Acunaş 1, Servet Güreşçi 2, Şemsi Altaner 2
1Trakya Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Edirne
2Trakya Üniversitesi Tıp Fakültesi Patoloji Anabilim Dalı, Edirne
Pages : 149-151

Abstract

Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder which is accompanied by many congenital malformations. The syndrome is caused by a congenital deficiency of 7-dehydrocholesterol reductase which is localized on 11q13 gene and it is the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol to cholesterol. The infant was born on the 35. week of gestation and weighed 1500 grams. Anomalies evident on physical examination included dry and thinned skin, micrognathia, hypertelorism, low-set ears, anteverted nares, a long philtrum, cleft palate, ulnar deviation and distal flexion contracture of the fingers, equinovarus deformity and hammer toe, syndactyly of the right toes and ambiguous genitalia. Total cholesterol concentration was 108 mg/dl and LDL-cholesterol was 48.8 mg/dl. The infant died on postnatal day 25 and her autopsy revealed a right lung with two lobes, atrial septal defect, patent ductus arteriosus, bilateral dislocation of the ureter and insitu in the left adrenal gland.

Keywords : Cholesterol; Smith-Lemli-Opitz syndrome; 7-dehydrocholesterol reductase

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