Ellis –van – Creveld syndrome

AuthorSemira Mehralizadehen
AuthorMohammad Faranoshen
AuthorAli Baseren
Issued Date2004-06-30en
AbstractEllis- van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia,polydactly , and congenital heart disease, that frequently presents with the single atrium defect. Chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are very rare. The reported case is a 2800 gr female neonate with polydactyly of fingers, short limbs, deformed chest, single atrium and cystic kidney.en
DOIhttps://doi.org/en
KeywordEllis-van Creveld Syndrome, Chondroectodermal dysplasia, polydacytly, single atriumen
Keywordسندرم Ellis Van Creveld، دیس‌پلازی کندرواکتودرمال، پلی‌داکتیلی، دهلیز منفردen
PublisherBrieflandsen
TitleEllis –van – Creveld syndromeen
TypeResearch Articleen

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