title: An unusual renal complication in a patient with osteogenesis imperfecta.
abstract: Osteogenesis imperfecta (OI) is a common 'rare' disorder with a reported incidence of 1/15,000 to 1/20,000 in newborns. Skeletal abnormalities in this condition are so striking that its equally important and diverse extraskeletal manifestations frequently remain unnoticed. Sensorineural deafness, blue sclerae, myopia, easy bruisability, dental anomalies, and floppy mitral valves are some of its more frequently reported extraskeletal features. Other less common features include pulmonary hypoplasia, joint contractures, hydrocephalus, and osteogenic sarcoma. Our patient, a 16-year-old boy, developed a previously unreported complication: chronic renal failure, which on subsequent evaluation was attributed to obstructive uropathy secondary to bony pelvic outlet deformities.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905.
authors.forename: L
authors.initials: L
authors.lastname: Butani
authors.forename: J A
authors.initials: JA
authors.lastname: Rosekrans
authors.forename: B Z
authors.initials: BZ
authors.lastname: Morgenstern
authors.forename: D S
authors.initials: DS
authors.lastname: Milliner
mesh_terms: D000077:Acetabulum / Q000000981:diagnostic imaging* / Q000473:pathology; D000293:Adolescent; D006801:Humans; D015994:Incidence; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000453:epidemiology; D011859:Radiography; D001750:Urinary Bladder, Neurogenic / Q000150:complications