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Hypothelia, syndactyly, and ear malformation—a variant of the scalp‐ear‐nipple syndrome?: Case report and review of the literature
Author(s) -
Baris Hagit,
Tan WenHann,
Kimonis Virginia E.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30612
Subject(s) - syndactyly , scalp , medicine , anatomy
The scalp‐ear‐nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. We report a case of a woman with hypothelia, bilateral mildly malformed ears, and syndactyly of the hands and feet, and review the literature on the hypothelia/athelia phenotype. This case may represent a mild phenotype of the scalp‐ear‐nipple syndrome or a newly recognized entity. © 2005 Wiley‐Liss, Inc.