Article
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
American journal of human genetics - 1 Feb 1999
van Bokhoven H, Jung M, Smits A P, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings J H, Mariman E C, Brunner H G, Wienker T F, Reis A, Ropers H H, Hamel B C
Abstract excerpt
We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without bifid uvula. This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary...
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