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

@entity1 @entity29284 @entity851 @entity4998 @entity51051 @entity2695 @entity3030 @entity5149 @entity27832 @entity2438 @entity600 @entity509 @entity2611 @entity2094 @entity70595 @entity14883
The @entity51051 (MIM 181450) includes @entity70595 , @entity851 , delayed @entity4998 , and mammary and apocrine gland @entity509 . @entity27832 (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately @entity851 . We describe a three-generation family with variable expression of @entity29284 , @entity14883 , ulnar ray defects and @entity851 . The proband had @entity29284 with missing IV-Vth fingers, fibular @entity509 on the right, bilateral @entity5149 , @entity851 , a hypoplastic mid-face, an @entity2438 and @entity2695 . She had normal mammary tissue and normal sweating. The mother had @entity851 , @entity2094 , a hypoplastic ulna and @entity509 of the IVth metacarpal ( @entity14883 ) on the right without other associated @entity600 . The maternal grandfather had mild @entity3030 and midphalangeal @entity14883 of the @entity2611 . His sister had mild @entity851 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 @entity1 may have a previously undescribed syndrome.
