A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
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.
Young
I D
ID
Department of Clinical Genetics, City Hospital, Nottingham.
Zuccollo
J M
JM
Broderick
N J
NJ
D015519:Bone Density; D001846:Bone Development; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology