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

Year: 2005

Type: article

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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.30612

Authors: Hagit Baris, Wen-Hann Tan, Virginia E. Kimonis

Institutions: Boston Children's Hospital, Harvard University

Language: English

Topic: Congenital Ear and Nasal Anomalies

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1992264310

FWCI: 0.446

Cites: 22

Cited by: 14

Related to: 10