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 com
Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients
✍ Scribed by Vald�z-de la Torre, Ma. Hortensia; Quintana-Garc�a, M�nica; Can�n, Sonia
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 13 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990716)85:2<157::aid-ajmg10>3.0.co;2-a
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✦ Synopsis
The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/ palate in two generations, probably as a variable expression of an autosomal dominant gene. Am.
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