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Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with PDA

Author: 
Rama Devi, M., Jaya Bhaskar, C., Sree lalitha, B and Nandini, M.
Subject Area: 
Health Sciences
Abstract: 

Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) Syndrome is inherited as autosomal dominant disorder of ectodermal and/or mesodermal interaction with highly variable expression and reduced penetrance. It is characterized by the triad of ectrodactyly of the hands and/or feet, ectodermal dysplasia of the skin, hair, nails and teeth, with or without clefting anomalies affecting the lips and/or palate (Roelfsema et al., 1996). In patients with the EEC syndrome without cleft lip or palate, a characteristic facial morphology characterized by maxillary hypoplasia, a short philtrum, and a broad nasal tip has been described (Pries et al., 1974). We reported a rare case of 53 year old male patient with EEC syndrome presenting with PDA and heart failure with typical characteristic features of ectrodactyly. He underwent surgical closure for his PDA. Conclusion: The presence of ectrodactyly with other congenital abnormalities is reason to consider the EEC syndrome within the differential diagnosis. While rare in itself, the association of the EEC syndrome with a Patent Ductus Arteriosus is uncommon.

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