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Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.
Am J Med Genet. 1992 Sep 15; 44(2):158-62.AJ

Abstract

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Authors+Show Affiliations

Richieri-Costa A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida ML
No affiliation info available
Freire-Maia N
No affiliation info available
Pinheiro M
No affiliation info available

MeSH

Abnormalities, MultipleAdultConsanguinityEctodermal DysplasiaFemaleGenes, RecessiveHumansLimb Deformities, CongenitalMouth AbnormalitiesPedigreeSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

1456284

Citation

Richieri-Costa, A, et al. "Autosomal Recessive Cleft Lip/palate, Ectodermal Dysplasia, and Minor Acral Anomalies: Report of a Brazilian Family." American Journal of Medical Genetics, vol. 44, no. 2, 1992, pp. 158-62.
Richieri-Costa A, Guion-Almeida ML, Freire-Maia N, et al. Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. Am J Med Genet. 1992;44(2):158-62.
Richieri-Costa, A., Guion-Almeida, M. L., Freire-Maia, N., & Pinheiro, M. (1992). Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. American Journal of Medical Genetics, 44(2), 158-62.
Richieri-Costa A, et al. Autosomal Recessive Cleft Lip/palate, Ectodermal Dysplasia, and Minor Acral Anomalies: Report of a Brazilian Family. Am J Med Genet. 1992 Sep 15;44(2):158-62. PubMed PMID: 1456284.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. AU - Richieri-Costa,A, AU - Guion-Almeida,M L, AU - Freire-Maia,N, AU - Pinheiro,M, PY - 1992/9/15/pubmed PY - 1992/9/15/medline PY - 1992/9/15/entrez SP - 158 EP - 62 JF - American journal of medical genetics JO - Am J Med Genet VL - 44 IS - 2 N2 - We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/1456284/Autosomal_recessive_cleft_lip/palate_ectodermal_dysplasia_and_minor_acral_anomalies:_report_of_a_Brazilian_family_ DB - PRIME DP - Unbound Medicine ER -