A case of atelosteogenesis.
Open Access
- 1 March 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (3) , 194-197
- https://doi.org/10.1136/jmg.27.3.194
Abstract
Atelosteogenesis is a rare chondrodysplasia characterised by rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. The diagnosis is confirmed radiologically: short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges are characteristic findings. We report a male child with this condition born to first cousin Bengali parents.Keywords
This publication has 6 references indexed in Scilit:
- Variant of atelosteogenesis? Report of a 20-week fetusAmerican Journal of Medical Genetics, 1988
- Two lethal chondrodysplasias with giant chondrocytesAmerican Journal of Medical Genetics, 1983
- Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasiaAmerican Journal of Medical Genetics, 1982
- AtelosteogenesisAmerican Journal of Medical Genetics, 1982
- New forms of neonatal death dwarfism. Report of 3 cases.1981
- New forms of Neonatal Death DwarfismPediatric Radiology, 1981