Related Experiment Videos
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients
M L Guion-Almeida1, E S Rodini, N M Kokitsu-Nakata
1Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
American Journal of Medical Genetics
|March 25, 1998
Summary
Blepharocheilodontic (BCD) syndrome is a rare genetic disorder characterized by facial clefts, dental issues, and eyelid abnormalities. This study identified four Brazilian patients, suggesting variable expressivity and autosomal dominant inheritance patterns.
Area of Science:
- Genetics
- Ophthalmology
- Craniofacial Anomalies
Background:
- Blepharocheilodontic (BCD) syndrome is a rare disorder with a variable combination of clinical signs.
- Understanding its inheritance patterns and expressivity is crucial for diagnosis and genetic counseling.
Observation:
- Four Brazilian patients presented with cleft lip and palate, dental anomalies, ectropion, euryblepharon, and lagophthalmia.
- Two cases were sporadic, while two exhibited familial occurrence (mother and son).
Findings:
- The observed signs align with the characteristics of Blepharocheilodontic (BCD) syndrome.
- Variable expressivity and autosomal dominant inheritance were noted in the familial cases.
Implications:
- This report expands the understanding of BCD syndrome's clinical spectrum and geographic distribution.
- Further research into the genetic basis of BCD syndrome is warranted for improved diagnostic and therapeutic strategies.