[Autosomal recessive spondylometaphyseal dysplasia. Apropos of 3 familial cases]. / Dysplasie spondylométaphysaire récessive autosomique. A propos de trois cas familiaux.
Ann Genet
; 30(4): 216-20, 1987.
Article
en Fr
| MEDLINE
| ID: mdl-3501265
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.
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Banco de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Genes Recesivos
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
Fr
Año:
1987
Tipo del documento:
Article