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Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.
Cleft Palate Craniofac J. 2000 Jan; 37(1):78-82.CP

Abstract

OBJECTIVE

To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation.

METHODS

DNA analysis and sequencing of the FGFR3 gene were performed.

RESULTS

The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation. Examination of a skin biopsy specimen revealed the typical findings of acanthosis nigricans. Genetic analysis revealed the Ala391Glu mutation in one FGFR3 gene.

CONCLUSIONS

Crouzon syndrome with acanthosis nigricans is a distinct clinical entity different from classic Crouzon syndrome.

Authors+Show Affiliations

Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan. nagase@ncnp.go.jpNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10670894

Citation

Nagase, T, et al. "Crouzon Syndrome With Acanthosis Nigricans: Case Report and Mutational Analysis." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 37, no. 1, 2000, pp. 78-82.
Nagase T, Nagase M, Hirose S, et al. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Cleft Palate Craniofac J. 2000;37(1):78-82.
Nagase, T., Nagase, M., Hirose, S., & Ohmori, K. (2000). Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 37(1), 78-82.
Nagase T, et al. Crouzon Syndrome With Acanthosis Nigricans: Case Report and Mutational Analysis. Cleft Palate Craniofac J. 2000;37(1):78-82. PubMed PMID: 10670894.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. AU - Nagase,T, AU - Nagase,M, AU - Hirose,S, AU - Ohmori,K, PY - 2000/2/12/pubmed PY - 2000/3/11/medline PY - 2000/2/12/entrez SP - 78 EP - 82 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac. J. VL - 37 IS - 1 N2 - OBJECTIVE: To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation. METHODS: DNA analysis and sequencing of the FGFR3 gene were performed. RESULTS: The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation. Examination of a skin biopsy specimen revealed the typical findings of acanthosis nigricans. Genetic analysis revealed the Ala391Glu mutation in one FGFR3 gene. CONCLUSIONS: Crouzon syndrome with acanthosis nigricans is a distinct clinical entity different from classic Crouzon syndrome. SN - 1055-6656 UR - https://wwww.unboundmedicine.com/medline/citation/10670894/Crouzon_syndrome_with_acanthosis_nigricans:_case_report_and_mutational_analysis_ L2 - http://journals.sagepub.com/doi/full/10.1597/1545-1569_2000_037_0078_cswanc_2.3.co_2?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -