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Beare-Stevenson cutis gyrata syndrome.
Am J Med Genet. 1992 Sep 01; 44(1):82-9.AJ

Abstract

Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation.

Authors+Show Affiliations

Hall BD
Department of Pediatrics, University of Kentucky, Lexington.
Cadle RG
No affiliation info available
Golabi M
No affiliation info available
Morris CA
No affiliation info available
Cohen MM
No affiliation info available

MeSH

Abnormalities, MultipleCraniosynostosesFemaleHumansInfant, NewbornMaleSkin AbnormalitiesSkullSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1519658

Citation

Hall, B D., et al. "Beare-Stevenson Cutis Gyrata Syndrome." American Journal of Medical Genetics, vol. 44, no. 1, 1992, pp. 82-9.
Hall BD, Cadle RG, Golabi M, et al. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992;44(1):82-9.
Hall, B. D., Cadle, R. G., Golabi, M., Morris, C. A., & Cohen, M. M. (1992). Beare-Stevenson cutis gyrata syndrome. American Journal of Medical Genetics, 44(1), 82-9.
Hall BD, et al. Beare-Stevenson Cutis Gyrata Syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9. PubMed PMID: 1519658.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Beare-Stevenson cutis gyrata syndrome. AU - Hall,B D, AU - Cadle,R G, AU - Golabi,M, AU - Morris,C A, AU - Cohen,M M,Jr PY - 1992/9/11/pubmed PY - 2001/3/28/medline PY - 1992/9/11/entrez SP - 82 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 44 IS - 1 N2 - Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1519658/Beare_Stevenson_cutis_gyrata_syndrome_ DB - PRIME DP - Unbound Medicine ER -