[Autosomal recessive spondylometaphyseal dysplasia. Apropos of 3 familial cases].
作者信息
Meziane A O, Meziane A, Ksiyer M, Bennani-Smires C, Khalifa H H
机构信息
Service de Pédiatrie III, CHU Ibn Rochd, Casablanca.
出版信息
Ann Genet. 1987;30(4):216-20.
PMID:3501265
Abstract
The spondylometaphyseal dysplasias are a group of chondrodystrophies characterised by irregularities of long bones' metaphyses associated with platyspondylia. We report three familial cases (one girl and two boys) whose parents are normal and consanguineous. Our three observations in spite of their analogy with Kozlowski's type, are distinguished by more discrete lesions of the rachis and pelvis and by their autosomal recessive mode of inheritance.
摘要
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