Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

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.

Blepharo-Cheilo-Dontic (BCD) Syndrome: Case Report

“…In our patient, all the deciduous teeth were missing, and only four tooth buds of permanent molars were present symmetrically. It is possible that molar tooth buds will be produced hereafter, and the type of oligodontia will be similar to that reported by Martinez et al (1987) and Guion-Almeida et al (1998).…”

“…Gorlin et al (1996) originally proposed this syndrome; they reviewed reports published before 1996 of patients with a similar presentation, and concluded that 12 cases (Piper, 1957;Allanson and Mc-Gillivary, 1985;Martinez et al, 1987;Falace and Hall, 1989; 8 cases of Korula et al, 1995) could be classified as BCD syndrome. Since then, 21 cases have been reported, including the patient discussed here: 8 by Gorlin et al (1996; case 3, however, was the same patient reported by Piper in 1957), 4 by Guion-Almeida et al (1998), 2 by Valdez et al (1999, 1 by Yen et al (2001), 3 by Lopes et al (2003), 1 by Martinhago and Ramos (2004), and 1 by Salinas and Bray (2004). Only 32 cases, therefore, have been reported (Table 1).…”

“…The sites of missing teeth in mild oligodontia cases were adjacent to the cleft of alveolus (Guion-Almeida et al, 1998) and deciduous canine or second premolar (Korula et al 1995), where the missing teeth are usually observed in nonsyndromic cleft patients (Ranta, 1986). Two cas-es had severe oligodontia, and all teeth except the permanent molars were missing symmetrically (Martinez et al, 1987;Guion-Almeida et al, 1998). In our patient, all the deciduous teeth were missing, and only four tooth buds of permanent molars were present symmetrically.…”

“…When we reviewed the relatively detailed reports about oligodontia, it varied from a mild form (Guion-Almeida et al, 1998; loss of a few teeth adjacent to the cleft of alveolus) to anodontia (Korula et al, 1995). The sites of missing teeth in mild oligodontia cases were adjacent to the cleft of alveolus (Guion-Almeida et al, 1998) and deciduous canine or second premolar (Korula et al 1995), where the missing teeth are usually observed in nonsyndromic cleft patients (Ranta, 1986). Two cas-es had severe oligodontia, and all teeth except the permanent molars were missing symmetrically (Martinez et al, 1987;Guion-Almeida et al, 1998).…”

Blepharo–cheilo–dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes

“…The blepharo-cheilo-dontic (BCD) syndrome consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryplepharon, cleft lip/palate, and oligodontia. The BCD syndrome has autosomal dominant inheritance with variable expression [Martínez et al, 1987;Gorlin et al, 1996;Guion-Almeida et al, 1998;Valdéz-de la Torre et al, 1999]. At present, a gene for BCD syndrome has not been identified.…”