[Autosomal recessive spondylometaphyseal dysplasia. Apropos of 3 familial cases].
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.
D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
Dysplasie spondylométaphysaire récessive autosomique. A propos de trois cas familiaux.