Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism.
The in vitro protein-chemical features and the molecular background of osteogenesis imperfecta (OI), a heritable disorder of collagen I metabolism, have been elucidated in recent years. The aim of our study was to find the prevalence of dentinogenesis imperfecta (DI) and other dental anomalies in 88 patients with OI, to compare clinical with radiologic abnormalities, and to correlate these clinical/radiologic findings with the results of gel electrophoresis and molecular studies of collagen I. Twenty-eight percent of OI patients had DI. Most patients with DI had radiologic abnormalities, but some patients had radiologic signs compatible with DI, but no clinical signs of DI. OI type I patients with DI were more severely affected by OI than those without DI. In OI type III and IV, in contrast, there was no difference in overall severity between patients with and without DI. DI was not associated with any particular molecular aberration in any OI type. If defining DI from the presence of both clinical and radiologic signs, collagen I produced by cultured fibroblasts was qualitatively abnormal from all OI patients with DI. Some OI patients had dental abnormalities not resembling DI. A qualitative collagen abnormality could not be found in any of these patients. Denticles, i.e., calcifications within the pulpal cavity, were found more frequently in OI patients than in control subjects.
Lund
A M
AM
Department of Clinical Genetics, Rigshospitalet, Copenhagen.
Jensen
B L
BL
Nielsen
L A
LA
Skovby
F
F
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism*; D003784:Dental Pulp Calcification / Q000378:metabolism; D003811:Dentinogenesis Imperfecta / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000378:metabolism*; D015995:Prevalence; D011859:Radiography
D003094:Collagen