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Scalp-ear-nipple syndrome: additional manifestations.
Am J Med Genet. 1994 Apr 15; 50(3):247-50.AJ

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.

Authors+Show Affiliations

Newcastle and Northern New South Wales Genetics Service, Tamworth Base Hospital and Health Service, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8042668

Citation

Edwards, M J., et al. "Scalp-ear-nipple Syndrome: Additional Manifestations." American Journal of Medical Genetics, vol. 50, no. 3, 1994, pp. 247-50.
Edwards MJ, McDonald D, Moore P, et al. Scalp-ear-nipple syndrome: additional manifestations. Am J Med Genet. 1994;50(3):247-50.
Edwards, M. J., McDonald, D., Moore, P., & Rae, J. (1994). Scalp-ear-nipple syndrome: additional manifestations. American Journal of Medical Genetics, 50(3), 247-50.
Edwards MJ, et al. Scalp-ear-nipple Syndrome: Additional Manifestations. Am J Med Genet. 1994 Apr 15;50(3):247-50. PubMed PMID: 8042668.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Scalp-ear-nipple syndrome: additional manifestations. AU - Edwards,M J, AU - McDonald,D, AU - Moore,P, AU - Rae,J, PY - 1994/4/15/pubmed PY - 1994/4/15/medline PY - 1994/4/15/entrez SP - 247 EP - 50 JF - American journal of medical genetics JO - Am J Med Genet VL - 50 IS - 3 N2 - 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. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/8042668/Scalp_ear_nipple_syndrome:_additional_manifestations_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=50&issue=3&spage=247 DB - PRIME DP - Unbound Medicine ER -