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Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
Naveen Sankhyan1, Ram Krishan Kaushal, Sandip Sarin
1Department of Pediatrics, Indira Gandhi Medical College. nsankhyan@rediffmail.com
Dermatology Online Journal
|November 7, 2006
Summary
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome) typically involves limb malformations. This case highlights a rare EEC syndrome presentation without ectrodactyly in a young child.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant disorder.
- It primarily affects ectodermal structures, with common features including ectrodermal dysplasia, ectrodactyly, cleft lip/palate, and tear-duct anomalies.
Observation:
- A 44-month-old girl presented with features consistent with EEC syndrome.
- Notably, this patient lacked the characteristic ectrodactyly (limb malformation).
Findings:
- The case demonstrates that ectrodactyly may be absent in individuals with EEC syndrome.
- Subtle skeletal abnormalities might be present even without overt limb defects.
Implications:
- This presentation expands the known clinical spectrum of EEC syndrome.
- It underscores the importance of considering EEC syndrome in patients with ectodermal dysplasia and clefting, even in the absence of ectrodactyly.
- Further research may elucidate the genetic mechanisms underlying variable expressivity in EEC syndrome.
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