Title of article
Smith-Lemli-Opitz Syndrome: A Case Report
Author/Authors
Atik, Tahir Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Genetik Bilim Dalı, Türkiye , Onay, Hüseyin Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Türkiye , Aykut, Ayça Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Türkiye , Çoğulu, Özgür Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Genetik Bilim Dalı, Türkiye , Özkınay, Ferda Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Genetik Bilim Dalı, Türkiye
From page
83
To page
86
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual disability syndrome. SLOS is caused by DHCR7 mutations in the gene encoding for the delta 7 steroid reductase enzyme that converts 7-dehydrocholesterol to cholesterol. An 11-month-old boy was admitted to our clinic for failure to thrive, vomiting and ambiguous genitalia. SLOS was considered in the differential diagnosis due to clinical features and low serum cholesterol levels. Sequencing analysis of the DHCR7 gene showed a homozygous p.R352Q (c.1055 G A) mutation in the patient. SLOS should be taken into consideration in cases with multiple congenital anomalies, ambiguous genitalia, and mental retardation combined with low cholesterol levels.
Keywords
DHCR7 gene , neuromotor retardation , ambiguous genitalia , Y , shaped syndactyly
Journal title
Erciyes Medical Journal
Journal title
Erciyes Medical Journal
Record number
2597266
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