Omodysplasia.
Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited. Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called omodysplasia (from the Greek term for humerus).
Maroteaux
P
P
Clinique Maurice Lamy, Hopital des Enfants-Malades, France.
Sauvegrain
J
J
Chrispin
A
A
Farriaux
J P
JP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000328:Adult; D004550:Elbow / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000151:congenital* / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000473:pathology; D011859:Radiography