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  • Title: Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent.
    Author: Shamas MN, Zaman RS, Mir S, Masoodi I, Ganie MA.
    Journal: J Pediatr Endocrinol Metab; 2010; 23(1-2):189-92. PubMed ID: 20432822.
    Abstract:
    Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a form of short-limbed dwarfism that affects the skeleton and skin appendages. Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome. Metabolic consequences of chondroectodermal dysplasia have not been reported previously from India. We report a case of chondroectodermal dysplasia associated with metabolic disturbances qualifying a diagnosis of syndrome X. To our knowledge, this association has not been previously reported in the medical literature, and helps to unravel the metabolic association of this disorder.
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