Ellis-van creveld syndrome accompanied by cleft glans penisepispadias: a case report

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive skeletal dysplasia which presents with chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. Urinary tract anomalies such as renal agenesis, congenital megaureter, hypospadias and hypoplastic external genital...

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Veröffentlicht in:Gülhane Tip Dergisi 2016-03, Vol.58 (1), p.88
Hauptverfasser: Altan, Bilal, Bulut, Engin Burak, Çalışkan, Mehmet Bahadır, Güven, Ahmet, Sürer, Ilhami, Demirbağ, Suzi
Format: Artikel
Sprache:eng ; tur
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Zusammenfassung:Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive skeletal dysplasia which presents with chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. Urinary tract anomalies such as renal agenesis, congenital megaureter, hypospadias and hypoplastic external genitalia are some of the rare associations of the EVC syndrome. EVC syndrome and cleft glans penis-epispadias association was not reported before.
ISSN:1302-0471
2146-8052
DOI:10.5455/gulhane.41638