Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
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.
Morava
Eva
E
University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary. emorava@yahoo.com
Czakó
Marta
M
Kárteszi
Judit
J
Cser
Beatrix
B
Weissbecker
Karen
K
Méhes
Karoly
K
D000328:Adult; D001827:Body Height; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D010375:Pedigree; D014457:Ulna / Q000002:abnormalities*