Osteogenesis imperfecta in a family.
Osteogenesis imperfecta (OI) is a rare, inherited condition in which not only the bones are abnormally brittle but also abnormalities in the ligamentous structures, of the eye, ear and skin coexist. Three members of the same family experienced the pathologic fractures with squaring deformity, but no blue sclerae or deafness. They presented with a relatively benign course treated conservatively.
Chen
W F
WF
Department of Pediatrics, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
Huang
S C
SC
Kuo
C Y
CY
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000628:therapy