Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
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.
Baris
Hagit
H
Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA.
Tan
Wen-Hann
WH
Kimonis
Virginia E
VE
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D009558:Nipples / Q000002:abnormalities*; D012535:Scalp / Q000002:abnormalities*; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities