American Journal of Medical Genetics · 1998 · 21 citations · 8 references
Corticobasal DegenerationPathologyHematologyCraniofacial AnomaliesCongenital DisordersPalate SurgeryDental AnomaliesNeuropathologyCleft LipHealth SciencesBrazilian PatientsCleft Lip RepairDevelopmental AnomalyNew PatientsGenetic DisorderPediatricsCraniofacial SurgeryMedicineCraniofacial Disorder
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 blepharo-cheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed. Am. J. Med. Genet. 76:133–136, 1998. © 1998 Wiley-Liss, Inc.
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Ankyloblepharon Filiforme Adnatum
Yaacov Rosenman · American journal of diseases of children · 1980 · 53 citations
Blepharo-cheilo-dontic (BCD) syndrome
Robert J. Gorlin, H Zellweger, Mary Curtis et al. · American Journal of Medical Genetics · 1996 · 39 citations