[Congenital spondyloepiphyseal dysplasia. Apropos of a case].
The present paper describes a case of spondyloepiphyseal dysplasia congenita (S.D.C.), a heritable bone dysplasia manifested at birth and characterized by short stature and retarded ossification of vertebral bodies, pelvis and extremities. Differential diagnosis which is important for genetic counselling purposes is established between S.D.C. and Morqu's disease, diastrophic dwarfism, metatropic dwarfism, psuedoachondroplasia and hypoachondroplasia.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D011859:Radiography
Displasia espondiloepifisial congénita. A propósito de un case.