Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
Am J Med Genet
; 52(2): 170-3, 1994 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-7802003
Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Encefalocele
/
Genes Recessivos
/
Miopia
/
Osso Occipital
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Brasil