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- Title
Ellis-Van Creveld Syndrome with Syndrome X - A Rare Association from the Indian Subcontinent.
- Authors
Shamas, M. Nasir; Zaman, Raja Sultan; Mir, Shahnawaz; Masoodit, Ibrahim; Ganie, Mohd Ashraf
- Abstract
The article discusses the case of Ellis-Van Creveld (EVC) syndrome associated with metabolic aberrations in a 16-year-old girl. It cites that EVC syndrome occurs in children whose average-sized parents carry the mutation for the disorder. Researchers were not able to determine how the metabolic disturbances resulted in EVC syndrome, but proposed the existence of biochemical association and components at birth.
- Subjects
ELLIS-van Creveld syndrome; DWARFISM; METABOLIC syndrome; ENERGY metabolism in children; METABOLISM in children; ENERGY metabolism
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2010, Vol 23, Issue 1/2, p189
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/JPEM.2010.23.1-2.189