Osteogenesis imperfecta in one of twins. Case report.
The is a report of a 5-year-old girl with osteogenesis imperfecta, an uncommon abnormality considered to encompass several distinct disorders and biochemically classified as a connective tissue disease. Affected individuals, in the more severe form of the disease, often die in utero or shortly thereafter secondary to birth trauma. The patient was one of dizygotic twins discordant for osteogenesis imperfecta tarda inherited as an autosomal dominant trait.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D014429:Twins, Dizygotic