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Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
Am J Med Genet. 1990 May; 36(1):1-6.AJ

Abstract

We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.

Authors+Show Affiliations

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2333896

Citation

Richieri-Costa, A, et al. "Autosomal Dominant Tibial Hemimelia-polysyndactyly-triphalangeal Thumbs Syndrome: Report of a Brazilian Family." American Journal of Medical Genetics, vol. 36, no. 1, 1990, pp. 1-6.
Richieri-Costa A, de Miranda E, Kamiya TY, et al. Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family. Am J Med Genet. 1990;36(1):1-6.
Richieri-Costa, A., de Miranda, E., Kamiya, T. Y., & Freire-Maia, D. V. (1990). Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family. American Journal of Medical Genetics, 36(1), 1-6.
Richieri-Costa A, et al. Autosomal Dominant Tibial Hemimelia-polysyndactyly-triphalangeal Thumbs Syndrome: Report of a Brazilian Family. Am J Med Genet. 1990;36(1):1-6. PubMed PMID: 2333896.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family. AU - Richieri-Costa,A, AU - de Miranda,E, AU - Kamiya,T Y, AU - Freire-Maia,D V, PY - 1990/5/1/pubmed PY - 1990/5/1/medline PY - 1990/5/1/entrez SP - 1 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 36 IS - 1 N2 - We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2333896/Autosomal_dominant_tibial_hemimelia_polysyndactyly_triphalangeal_thumbs_syndrome:_report_of_a_Brazilian_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=36&issue=1&spage=1 DB - PRIME DP - Unbound Medicine ER -