[Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case]. / Síndrome de Smith-Lemli-Opitz e hipotiroidismo: el primer caso venezolano.
Invest Clin
; 55(3): 260-5, 2014 Sep.
Article
em Es
| MEDLINE
| ID: mdl-25272525
ABSTRACT
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder due to an abnormal cholesterol synthesis. It was first described by Smith, Lemli and Opitz in 1964. Many cases of SLOS have been described since then, leading to the recognition as a relatively common malformation syndrome. Affected individuals have dysmorphism, microcephaly, multiple congenital malformations, mental retardation, aggressiveness and hyperactivity. The severity of physical defects correlates with the severity of the cholesterol deficiency, which is caused by an abnormally low activity of 7-dehydrocholesterol reductase, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. The occurrence of hypothyroidism in association with SLOS is very unusual. We describe the first Venezuelan case in which both anomalies are associated.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Smith-Lemli-Opitz
/
Hipotireoidismo
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Venezuela
Idioma:
Es
Ano de publicação:
2014
Tipo de documento:
Article