Peripheral dysplasia. Report of a new genetic syndrome.
A new, dominantly inherited form of peripheral dysplasia in three members of an Algerian family is reported. Two further individuals, not investigated, are also probably affected. The disease is characterised by distinctive clinico-radiological findings. A case of acromesomelic dysplasia of Maroteaux is also reported and the differential diagnosis of peripheral dysplasias is discussed.
Bacha
L
L
Centre Medico-Pedagogique pour Handicapes Moteur El-Harrach, Alger, Algeria.
Brachimi
L
L
Kozlowski
K
K
Massen
R
R
Morris
L
L
D000328:Adult; D001827:Body Height; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007360:Intelligence; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome