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  • Title: Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome.
    Author: Qureshi AU, Masood Y, Ali AS.
    Journal: J Coll Physicians Surg Pak; 2009 Dec; 19(12):803-5. PubMed ID: 20042164.
    Abstract:
    Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously.
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