A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
Open Access
- 1 February 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (2) , 155-157
- https://doi.org/10.1136/jmg.30.2.155
Abstract
The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance.Keywords
This publication has 2 references indexed in Scilit:
- A case of lethal congenital dwarfism with accelerated skeletal maturationPediatric Radiology, 1985
- The lethal multiple pterygium syndromesAmerican Journal of Medical Genetics, 1984