Two sibs with fibrochondrogenesis.
Am J Med Genet A
; 127A(3): 318-20, 2004 Jun 15.
Article
em En
| MEDLINE
| ID: mdl-15150788
ABSTRACT
Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1-3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni-Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Irmãos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article