title: Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent.
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.
authors.affiliation: Department of Endocrinology, Sheri-Kashmir Institute of Medical Sciences, Srinagar, J & K, India.
authors.forename: M Nasir
authors.initials: MN
authors.lastname: Shamas
authors.forename: Raja Sultan
authors.initials: RS
authors.lastname: Zaman
authors.forename: Shahnawaz
authors.initials: S
authors.lastname: Mir
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Masoodi
authors.forename: Mohd Ashraf
authors.initials: MA
authors.lastname: Ganie
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D004613:Ellis-Van Creveld Syndrome / Q000150:complications*; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007194:India; D024821:Metabolic Syndrome / Q000150:complications*; D014071:Tooth Abnormalities / Q000150:complications