Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.

ABSTRACT:

Introduction

Chondroectodermal dysplasia (Ellis-van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran.

Materials and methods

The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral e

SUBMITTER: Baghianimoghadam B 

PROVIDER: S-EPMC8958661 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature