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

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...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics 1998-03, Vol.76 (2), p.133-136
Main Authors: Guion-Almeida, M.L., Rodini, E.S.O., Kokitsu-Nakata, N.M., Bologna-Amantini, D.
Format: Article
Language:English
Subjects:
Adult
ankyloblepharon
Biological and medical sciences
Blepharophimosis - pathology
Child
Cleft Lip - pathology
Cleft Palate - pathology
Complex syndromes
dental anomaly
ectropion
Ectropion - pathology
euryblepharon
facial clefting
Female
Humans
lagophthalmia
Male
Medical genetics
Medical sciences
Syndrome
Tooth Abnormalities - pathology
Tropical medicine
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980305)76:2<133::AID-AJMG5>3.0.CO;2-U