Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.
Recently Maroteaux et al. [Am J Med Genet 32:371-375] described omodysplasia as a new distinct congenital bone disorder in 3 cases; autosomal dominant inheritance was suggested. In this same report, 2 other cases (patients 4 and 5) presented with the same facial and upper limb anomalies, but were also noted to have severe shortness of lower limbs. The authors considered all 5 cases to represent variable expressivity of the same disorder, namely, omodysplasia. Here we report 4 patients (3 survivors), offspring of consanguineous Arabic-Moslem couples. All presented at birth with severe short limb dwarfism and facial and radiologic appearance quite distinct from the first 3 patients of Maroteaux et al. [1989] with so-called omodysplasia. Thus, we suggest that our 4 cases and patients 4 and 5 of Maroteaux et al. [1989] represent a distinct, previously unpublished bone dysplasia.
Borochowitz
Z
Z
Genetics Institute, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Barak
M
M
Hershkowitz
S
S
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome