title: Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case.
abstract: We describe a patient who was born with flexion contractures and pterygia at the elbows, clubfeet, torticollis, and several rib fractures. During infancy and childhood, multiple fractures of the lower limbs occurred with minimal trauma and led to disabling deformities. When evaluated at age 19 years, he was normally intelligent, but extremely short, with severe kyphoscoliosis compromising his pulmonary function. Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented ambulation. He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. X-ray studies showed demineralized bones, severe deformity and cystic change at old fracture sites, and vertebral wedging. Collagen studies on skin fibroblasts were normal.
authors.affiliation: University of Pittsburgh, Pennsylvania, USA.
authors.forename: E
authors.initials: E
authors.lastname: McPherson
authors.forename: M
authors.initials: M
authors.lastname: Clemens
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003286:Contracture / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007592:Joint Diseases / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography