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Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients
M H Valdéz-de la Torre1, M Quintana-García, S Canún
1Departamento de Genética, Hospital General Dr. Manuel Gea González, Mexico City, Mexico. fara@servidor.unam.mx
American Journal of Medical Genetics
|July 16, 1999
Summary
Blepharo-cheilo-dontic (BCD) syndrome, characterized by eyelid abnormalities and cleft lip/palate, is described. This report details two patients with bilateral cleft lip/palate and lagophthalmia, suggesting autosomal dominant inheritance.
Area of Science:
- Ophthalmology
- Genetics
- Craniofacial Anomalies
Background:
- Blepharo-cheilo-dontic (BCD) syndrome is a rare condition characterized by a constellation of ocular and craniofacial anomalies.
- Previously reported cases exhibit variable combinations of ectropion, lagophthalmia, distichiasis, euryblepharon, cleft lip/palate, and oligodontia.
- Autosomal dominant inheritance is suggested for BCD syndrome, with ectropion, lagophthalmia, and bilateral cleft lip/palate being common features.
Observation:
- This study presents two unrelated patients diagnosed with bilateral cleft lip/palate and lagophthalmia.
- One patient exhibited a familial history of cleft lip/palate across two generations.
- This familial pattern suggests a potential variable expression of an autosomal dominant gene.
Findings:
- The two cases highlight the co-occurrence of bilateral cleft lip/palate and lagophthalmia.
- The familial occurrence in one patient supports the hypothesis of autosomal dominant inheritance for BCD syndrome.
- Variable expressivity of the genetic condition is indicated by the differing manifestations within the family.
Implications:
- These findings contribute to the understanding of the phenotypic spectrum and inheritance patterns of BCD syndrome.
- Early recognition of these combined features is crucial for timely diagnosis and management.
- Further research into the genetic basis of BCD syndrome is warranted to elucidate specific gene(s) and mutations.