Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.
Cole
W G
WG
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Chan
D
D
Chow
C W
CW
Rogers
J G
JG
Bateman
J F
JF
D000293:Adolescent; D000328:Adult; D001132:Arm / Q000002:abnormalities / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics; D006132:Growth Plate / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D011247:Pregnancy; D011859:Radiography; D013909:Thorax / Q000002:abnormalities; D014633:Valine / Q000235:genetics
D003094:Collagen; D014633:Valine; D005998:Glycine