Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients.

M L Guion-Almeida, E S Rodini, N M Kokitsu-Nakata, D Bologna-Amantini
Author Information
  1. M L Guion-Almeida: Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.

Abstract

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different combination of these signs were reviewed by Gorlin et al. [1996; Am J Med Genet 65:109-112] and named blepharocheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed.

MeSH Term

Adult
Blepharophimosis
Child
Cleft Lip
Cleft Palate
Ectropion
Female
Humans
Male
Syndrome
Tooth Abnormalities

Word Cloud

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