[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration].
作者信息
Khaldi F, Bennaceur B, Gharbi H A
机构信息
Service de Pédiatrie générale, Hôpital d'Enfants, Tunis.
出版信息
Arch Fr Pediatr. 1989 Jun-Jul;46(6):429-32.
PMID:2783003
Abstract
Two cases of a new type of hereditary chondrodysplasia are reported. The main features were: severe dwarfism, progressive scoliosis and bilateral dislocation of the hip. A neurosensory type of deafness with retinitis pigmentosa was also present. Radiographs showed diffuse osteoporosis, severe retardation of bone-age and dysplasia of the femoral head. There was no associated metabolic abnormality. The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance.
摘要
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