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Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.
Am J Med Genet. 1991 Nov 01; 41(2):141-52.AJ

Abstract

We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.

Authors+Show Affiliations

Laboratório de Genética Médica, Faculdade de Medicina, Universidade Federal da Bahia, Brasil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

1785624

Citation

Paes-Alves, A F., et al. "Autosomal Recessive Malformation Syndrome With Minor Manifestation in the Heterozygotes: a Preliminary Report of a Possible New Syndrome." American Journal of Medical Genetics, vol. 41, no. 2, 1991, pp. 141-52.
Paes-Alves AF, Azevêdo ES, Sousa MG, et al. Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. Am J Med Genet. 1991;41(2):141-52.
Paes-Alves, A. F., Azevêdo, E. S., Sousa, M. G., Almeida-Melo, N., & Oliveira-Filho, O. J. (1991). Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. American Journal of Medical Genetics, 41(2), 141-52.
Paes-Alves AF, et al. Autosomal Recessive Malformation Syndrome With Minor Manifestation in the Heterozygotes: a Preliminary Report of a Possible New Syndrome. Am J Med Genet. 1991 Nov 1;41(2):141-52. PubMed PMID: 1785624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. AU - Paes-Alves,A F, AU - Azevêdo,E S, AU - Sousa,M G, AU - Almeida-Melo,N, AU - Oliveira-Filho,O J, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 141 EP - 52 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 2 N2 - We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1785624/Autosomal_recessive_malformation_syndrome_with_minor_manifestation_in_the_heterozygotes:_a_preliminary_report_of_a_possible_new_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=2&spage=141 DB - PRIME DP - Unbound Medicine ER -