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.
Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Hearing Loss/genetics , Abnormalities, Multiple/pathology , Adult , Child , Consanguinity , Dermatoglyphics , Female , Genes, Recessive , Genetic Carrier Screening , Hearing Loss, Conductive/genetics , Hearing Loss, Sensorineural/genetics , Heterozygote , Humans , Male , PedigreeABSTRACT
Apresentamos caso de nevus azul celuloso da palpebra tecendo comentarios sobre a histogenese, aspectos clinicos, anatomo-patologicos e dificuldades no diagnostico diferencial clinico e histopatologico desta rara neoplasia com o melanoma maligno
