Beyond appearances: blepharo-cheilo-dontic syndrome. First case in Ecuador

نویسنده

  • Paola Vélez
چکیده

Blepharo-cheilo-dontic (BCD) syndrome comprises the combination of lagophthalmia, euryblepharon, lower eyelid ectropion, distichiasis, cleft lip and palate and oligodontia. This combination has been described as an autosomal dominant condition with variable expression. We herein described an Ecuadorian girl with consistent signs of BCD syndrome. Our patient also has unilateral hearing loss and metatarsus varus. The aim of this paper is to add this case of blepharo-cheilo-dontic syndrome to world casuistry, as it is considered a rare disease.

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تاریخ انتشار 2016