Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome

• DOI: 10.1097/01.mcd.0000072164.33788.0a
• Publication Date: 2011-04-16T14:21:02Z
• Authors: Év Morava; Marta Czakó; Judit Kárteszi; Beatrix Cser; Karen Weissbecker; Karoly Méhes
• Keywords: Adult; Family Health; Male; 0301 basic medicine; 0303 health sciences; Infant; Ulna; Body Height; UMCN 5.1: Genetic defects of metabolism; Pedigree; Fingers; 03 medical and health sciences; UMCN 5.3: Cellular energy metabolism; Humans; Female; Metacarpus; Hand Deformities, Congenital; Genes, Dominant

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.