CLINICAL ANALYSIS OF A LARGE KINDRED WITH THE PALLISTER ULNAR-MAMMARYSYNDROME

The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder cha racterized by posterior limb deficiencies or duplications, apocrine/ma mmary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical desc riptions of 33 members of a six generation kindred with UMS. The numbe r of affected individuals in this family is more than the sum of all p reviously reported cases of UMS. The clinical expression of UMS is hig hly variable. While most patients have limb deficiencies, the range of abnormalities extends from hypoplasia of the terminal phalanx of the 5th digit to complete absence of the ulna and 3rd, 4th, and 5th digits . Moreover, affected individuals may have posterior digital duplicatio ns with or without contralateral limb deficiencies. Apocrine gland abn ormalities range from diminished axillary perspiration with normal bre ast development and lactation, to complete absence of the breasts and no axillary perspiration. Dental abnormalities include misplaced or ab sent teeth. Affected males consistently undergo delayed puberty, and b oth sexes have diminished to absent axillary hair. Imperforate hymen w ere seen in some affected women. A gene for UIMS was mapped to chromos ome area 12q23-q24.1. A mutation in the gene causing UMS can interfere with limb patterning in the proximal/distal, anterior/posterior, and dorsal/ventral axes. This mutation disturbs development of the posteri or elements of forearm, wrist, and hand while growth and development o f the anterior elements remain normal. (C) 1996 Wiley-Liss, Inc.