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Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.
Am J Med Genet. 1992 Dec 01; 44(6):800-2.AJ

Abstract

We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed.

Authors+Show Affiliations

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1481850

Citation

Richieri-Costa, A, et al. "Acro-fronto-facio-nasal Dysostosis: Report of a New Brazilian Family." American Journal of Medical Genetics, vol. 44, no. 6, 1992, pp. 800-2.
Richieri-Costa A, Guion-Almeida ML, Pagnan NA. Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family. Am J Med Genet. 1992;44(6):800-2.
Richieri-Costa, A., Guion-Almeida, M. L., & Pagnan, N. A. (1992). Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family. American Journal of Medical Genetics, 44(6), 800-2.
Richieri-Costa A, Guion-Almeida ML, Pagnan NA. Acro-fronto-facio-nasal Dysostosis: Report of a New Brazilian Family. Am J Med Genet. 1992 Dec 1;44(6):800-2. PubMed PMID: 1481850.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family. AU - Richieri-Costa,A, AU - Guion-Almeida,M L, AU - Pagnan,N A, PY - 1992/12/1/pubmed PY - 1992/12/1/medline PY - 1992/12/1/entrez SP - 800 EP - 2 JF - American journal of medical genetics JO - Am J Med Genet VL - 44 IS - 6 N2 - We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1481850/Acro_fronto_facio_nasal_dysostosis:_report_of_a_new_Brazilian_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=44&issue=6&spage=800 DB - PRIME DP - Unbound Medicine ER -