Smith-Lemli-Opitz syndrome: A case report [Smith-Lemli-Opitz sendromu: Olgu sunumu]
Küçük Resim Yok
Tarih
2013
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. © 2013 by Erciyes University School of Medicine.
Açıklama
Anahtar Kelimeler
Ambiguous genitalia, DHCR7 gene, Neuromotor retardation, Y-shaped syndactyly
Kaynak
Erciyes Tip Dergisi
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
35
Sayı
2
