Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

Abstract

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.