Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.
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.
Paes-Alves
A F
AF
Laboratório de Genética Médica, Faculdade de Medicina, Universidade Federal da Bahia, Brasil.
Azevêdo
E S
ES
Sousa
M G
MG
Almeida-Melo
N
N
Oliveira-Filho
O J
OJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D003241:Consanguinity; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006228:Hand Deformities, Congenital / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree