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Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
J Christodoulou1, P N McDougall, L J Sheffield
1Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
Journal of Medical Genetics
|September 1, 1989
Insights
This study details a father and daughter with EEC syndrome, highlighting variable expressivity. New findings include choanal atresia, previously unreported in this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- The EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting syndrome) is a rare genetic disorder.
- It is characterized by a spectrum of anomalies affecting the limbs, skin, hair, nails, teeth, and facial structures.
- Variable expressivity means that individuals with the same genetic condition can exhibit different symptoms or severity.
Observation:
- A father and daughter presented with overlapping digital abnormalities, nasolacrimal duct obstruction, and alopecia.
- The father exhibited cleft lip and palate.
- The daughter presented with choanal atresia.
Findings:
- The clinical presentation suggests both individuals have EEC syndrome.
- The study demonstrates the variable expressivity of EEC syndrome within a single family.
- Choanal atresia is identified as a newly associated feature of EEC syndrome.
Implications:
- This report expands the known phenotypic spectrum of EEC syndrome.
- Recognizing choanal atresia as a potential manifestation aids in earlier diagnosis and management.
- Further research into the genetic basis and phenotypic variability of EEC syndrome is warranted.
Abstract:
We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.