Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics.
Acta Paediatr Scand Suppl
; 377: 96-103, 1991.
Article
em En
| MEDLINE
| ID: mdl-1785320
Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were from Israel. We have described 47 additional patients from an inbred population of South Ecuador and have emphasized certain clinical features including: markedly advanced osseous maturation for height age; normal body proportions in childhood but child-like proportions in adults; much greater deviation of stature than head size, giving an appearance of large cranium and small facies; underweight in childhood despite the appearance of obesity and true obesity in adulthood; blue scleras; and limited elbow extension. The Ecuadorean patients differed markedly and most importantly from the other large concentration, in Israel, by being of normal or superior intelligence, suggesting a unique linkage in the Ecuadorean population. The Ecuadorean population also differed in that those patients coming from Loja province had a markedly skewed sex ratio (19 females: 2 males), while those from El Oro province had a normal sex distribution (14 females: 12 males). The phenotypic similarity between the El Oro and Loja patients indicates that this abnormal sex distribution is not a direct result of the GHRD.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores da Somatotropina
/
Nanismo
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Asia
/
Ecuador
Idioma:
En
Revista:
Acta Paediatr Scand Suppl
Ano de publicação:
1991
Tipo de documento:
Article
País de afiliação:
Equador
País de publicação:
Suécia