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  • Title: Scalp-ear-nipple syndrome: additional manifestations.
    Author: Edwards MJ, McDonald D, Moore P, Rae J.
    Journal: Am J Med Genet; 1994 Apr 15; 50(3):247-50. PubMed ID: 8042668.
    Abstract:
    Scalp-ear-nipple (SEN) syndrome is a rare, autosomal dominant condition that causes aplasia cutis congenita of the scalp, alteration of the shape of the external ear, and hypoplasia of the nipple. Women in a new family, the fifth to be described, had virtually complete aplasia of the breast and a small skin dimple without any pigmentation instead of a normal nipple, although other affected women had normal breast and nipple development. Dental changes included widely spaced or missing secondary teeth; the ears were cupped or folded and stood out from the head, axillary apocrine secretion and axillary hair growth were reduced; and finger nails were brittle. There was no generalized abnormality of sweating. Some patients had partial syndactyly of the 3rd and 4th fingers, and complete cutaneous syndactyly of the 2nd and 3rd toes. and 3rd toes.
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