Ovarian endometriotic cyst in a patient with Ellis-van Creveld's syndrome: case report

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This case report describes the occurrence of an ovarian endometriotic cyst in a patient with Ellis-van Creveld syndrome, highlighting a rare clinical association between this genetic disorder and endometriosis.

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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.

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Condition tags

endometriosis

MeSH descriptors

Ellis-Van Creveld Syndrome Endometriosis Ovarian Cysts Adult Adult Ellis-Van Creveld Syndrome Ellis-Van Creveld Syndrome Endometriosis Endometriosis Endometriosis Female Female Humans Humans Laparoscopy Laparoscopy Laparoscopy Ovarian Cysts Ovarian Cysts Ovarian Cysts

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Source provenance

europepmc
last seen: 2026-10-25T09:32:14.900964+00:00
pubmed
last seen: 2026-10-08T21:05:19.467219+00:00
License: public-domain-us · commercial use OK · attribution required
Courtesy of the U.S. National Library of Medicine