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Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome
Beatriz Moritz Trope1, Jaline Noronha Salomão, Violeta Duarte Tortelly Costa
1Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil. biatrope@gmail.com
Anais Brasileiros De Dermatologia
|October 15, 2010
Summary
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) is a rare genetic disorder. This case report details a male patient with EEC stigmata but no cleft lip/palate, highlighting variable expression.
Area of Science:
- Genetics
- Medical Genetics
- Rare Diseases
Background:
- Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome (EEC) is a rare autosomal dominant genetic disorder.
- It exhibits variable expression and penetrance.
- The condition is linked to mutations or translocations involving chromosome 7.
Purpose of the Study:
- To describe a case of EEC syndrome.
- To highlight the variable clinical presentation of EEC syndrome, specifically the absence of cleft lip/palate.
- To document familial occurrence of the syndrome.
Main Methods:
- Case report.
- Clinical examination.
- Review of medical history and family history.
Main Results:
- A 35-year-old male presented with syndromic stigmata of EEC since birth.
- The patient did not exhibit cleft lip/palate, a key feature of the syndrome.
- Four affected relatives were identified, indicating familial transmission.
Conclusions:
- EEC syndrome can present with significant variability in its clinical manifestations.
- The absence of cleft lip/palate does not exclude the diagnosis of EEC syndrome.
- Genetic counseling and further research are warranted for this rare disorder.
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