Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster...

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Detalles Bibliográficos
Autores principales: Sharma, Deepak, Kumar, Chetan, Bhalerao, Sanjay, Pandita, Aakash, Shastri, Sweta, Sharma, Pradeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468833/
https://www.ncbi.nlm.nih.gov/pubmed/26137453
http://dx.doi.org/10.3389/fped.2015.00051
Descripción
Sumario:Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

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