Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review

December 2020 in “ Dermatologic Therapy ”

Mohammadreza Ghassemi, Azadeh Goodarzi, Farnoosh Seirafianpour, Samaneh Mozafarpoor, Elham Ziaeifar

androgenic alopecia polycystic ovarian syndrome polycystic ovarian disease PCOS

TLDR Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

The document presents a case of a 40-year-old woman with Ellis van Creveld syndrome (EVC), a rare genetic disorder, who exhibited several uncommon symptoms including androgenic alopecia, polycystic ovarian syndrome, and severe osteoporosis among others. For the first time in EVC syndrome, conditions like Pectus excavatum, Phrygian cap gallbladder, Liver hemangioma, poly cystic ovarian disease, and breast fibrocystic cysts were reported. The study concludes that EVC syndrome can cause abnormalities in other organs of the body too, and clinical manifestations other than the reported cases are therefore not unexpected in these patients. The document emphasizes the need for thorough and accurate evaluations of patients with this syndrome due to the potential for new complications.

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research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review

4 citations, December 2020 in “Dermatologic Therapy”

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.