Ulnar/fibular Ray Defect And Brachydactyly

Morava et al. (2003) described a 3-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects, and short stature. The proband had ulnar hypoplasia with missing fourth and fifth fingers, fibular hypoplasia on the right, bilateral clubfeet, growth retardation, a hypoplastic midface, atrial septal defect, and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna, and hypoplasia of the fourth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the fourth and fifth toes. His sister had mild short stature and shortening of the fourth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the ulnar-mammary syndrome (181450) locus at 12q24.1 did not confirm linkage. Morava et al. (2003) suggested that the patients in this family may have a previously undescribed syndrome.