| Literature DB >> 28386830 |
M L Kulkarni1, Prakash S Matadh1, S P Praveen Prabhu2, Preeti M Kulkarni1.
Abstract
Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritence, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.Entities:
Keywords: Autosomal recessive; Fibrochondrogenesis; Lethal skeletal dysplasia
Year: 2005 PMID: 28386830 DOI: 10.1007/BF02724021
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 1.967