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The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases
Xavier Bigatà1, Isabel Bielsa, Merce Artigas
1Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Spain.
Pediatric Dermatology
|March 27, 2003
Summary
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) shows significant variability. Diagnosis requires careful family screening, as cardinal signs are not always present.
Area of Science:
- Genetics
- Clinical Medicine
- Human Phenotypes
Background:
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare genetic disorder.
- The syndrome is characterized by a spectrum of congenital anomalies.
Observation:
- Five patients from two pedigrees presented with EEC syndrome.
- Observed features included ectodermal dysplasia, with variable limb ectrodactyly and orofacial clefting.
Findings:
- The study highlights the extensive phenotypic variability within EEC syndrome.
- No single feature is mandatory for diagnosis, emphasizing diagnostic challenges.
Implications:
- Meticulous examination of all family members is crucial for accurate EEC syndrome diagnosis.
- Understanding phenotypic variability aids in genetic counseling and patient management.