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 ra...

Full description

Saved in:
Bibliographic Details
Published inIndian journal of pediatrics Vol. 72; no. 4; pp. 355 - 357
Main Authors KULKARNI, M. L, MATADH, Prakash S, PRAVEEN PRABHU, S. P, KULKARNI, Preeti M
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.04.2005
Subjects
Biological and medical sciences
Consanguinity
Dwarfism - diagnosis
Dwarfism - genetics
General aspects
Genes, Recessive
Humans
Infant, Newborn
Male
Medical sciences
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Asia
India
Human
Case study
Pediatrics
Dysplasia
Autosomal recessive
Newborn
Diseases of the osteoarticular system
Chondrodysplasia
Tropical medicine
Lethal skeletal dysplasia
Bone
Fibrochondrogenesis
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ObjectType-Case Study-2
ObjectType-Feature-4
ObjectType-Report-1
ObjectType-Article-3
ISSN:0019-5456
0973-7693
DOI:10.1007/BF02724021