Ellis-van Creveld (EvC) syndrome, or chondroectodermal dysplasia, is a rare genetic disorder associated with chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital cardiac malformations. The disorder is due to an autosomal-recessive mutation mapped to chromosome 4p16. It may occur with different phenotypes. The case of an ovarian endometriotic cyst in a patient suffering from EvC syndrome is reported.
Ovarian endometriotic cyst in a patient with Ellis-van Creveld's syndrome: case report
RETTO, Giovanni;STURLESE, Emanuele;PALMARA, Vittorio Italo;DE DOMINICI, ROSANNA
2008-01-01
Abstract
Ellis-van Creveld (EvC) syndrome, or chondroectodermal dysplasia, is a rare genetic disorder associated with chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital cardiac malformations. The disorder is due to an autosomal-recessive mutation mapped to chromosome 4p16. It may occur with different phenotypes. The case of an ovarian endometriotic cyst in a patient suffering from EvC syndrome is reported.File in questo prodotto:
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