Blomstrand lethal osteochondrodysplasia.
We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity. The unknown genetic defect interferes severely with skeletal growth through lack of chondrocyte multiplication and apparent uncoupling of the processes of enchondral ossification and skeletal growth.
Leroy
J G
JG
Department of Medical Genetics and Pediatrics, Ghent University School of Medicine, Belgium.
Keersmaeckers
G
G
Coppens
M
M
Dumon
J E
JE
Roels
H
H
D000328:Adult; D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D009679:Nuclear Family; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography