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Indian J Pediatr ; 2005 Apr; 72(4): 355-7
Article Dans Anglais | IMSEAR | ID: sea-82571

Résumé

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, inheritance, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.


Sujets)
Consanguinité , Nanisme/diagnostic , Gènes récessifs , Humains , Nouveau-né , Mâle , Ostéochondrodysplasies/diagnostic
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