[A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)].
The authors report a family of 5 subjects suffering from pseudoachondroplastic dysplasia in an autosomal dominant form. The interest of this report lies in the radiological documents obtained in the subjects at different ages (3, 18 and 63 years) and the extreme rarity of autosomal dominant forms since only six familial cases of this type have been described up to the present time.
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography
La dysplasie pseudoachondroplasique à forme dominante. Une observation familiale.