Fibrochondrogenesis.
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.
Kulkarni
M L
ML
Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.
Matadh
Prakash S
PS
Praveen Prabhu
S P
SP
Kulkarni
Preeti M
PM
D003241:Consanguinity; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics