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ISSN 2070-8718 (Print)

2013, Number 3

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Rev Cub Gen 2013; 7 (3)

Smith-Lemli-Opitz syndrome: current criteria for genetic counseling

Martín GD, Aquino PAA

Language: Spanish
References: 50
Page: 4-11
PDF size: 641.11 Kb.


ABSTRACT

Smith-Lemli-Opitz syndrome is a congenital cholesterol metabolism error, caused by a deficiency in 7-dehydrocholesterol reductase enzyme. It has a recessive autosomal inheritance and is clinically characterized by microcephaly, facial dysmorphia, feet 2-3 syndactyly, genital anomalies in males, physical and mental retardation, conduct disorders and multiple major and minor malformations. Diagnosis is based either on demonstrating the increased 7-dehydrocholesterol concentration in plasma or other tissues by gas chromatography / mass spectrometry techniques or on the existence of pathogenic mutations of the DHCR7 gene. The standard treatment consists in supplying dietetic or purified cholesterol. In Caucasian origin populations the estimate frequency ranges from 1:10 000 to 1:70 000 births. In this paper the main clinical, biochemical, genetic and therapeutic issues necessary for an adequate genetic counseling are presented and discussed.


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