Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients

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. Ectropio...

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Veröffentlicht in:American journal of medical genetics 1999-07, Vol.85 (2), p.157-159
Hauptverfasser: VALDEZ-DE LA TORRE, M. H, QUINTANA-GARCIA, M, CANUN, S
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Sprache:eng
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Zusammenfassung: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. J. Med. Genet. 85:157–159, 1999. © 1999 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19990716)85:2<157::AID-AJMG10>3.0.CO;2-A