Osteogenesis imperfecta (OI), a rare connective tissue deformity, can be classified into four categories, one of which (type II) is lethal. Lethal OI can be detected with the use of ultrasound prenatally. The authors studied nine OI cases, seven type II OI cases, and two nonlethal cases. All seven type II OI cases had very short limbs. In six of the seven cases, the back wall of the limb bone was visible (transparent bone sign). In four of the seven cases, concave ribs were visualized in the transverse plane. An incidental finding, beaking of the anterior portion of the skull, was noted in five cases. The transparent bone sign and concave ribs were not observed in the two nonlethal cases of OI.
1. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet1979;16:101-116.
2.
2. Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL: Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet1984;17:407-423.
6. Brown BS: The prenatal ultrasonographic diagnosis of osteogenesis imperfecta lethalis. J Can Assoc Radiol1984;35:63-66.
7.
7. Elejalde BR, de Elejalde MM: Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet1983;14:353-359.
8.
8. Glanc P, Chitayat D, Azouz EM: The fetal musculoskeletal system, in Rumack CM, Wilson SR, Charboneau JW (eds): Diagnostic Ultrasound. St. Louis, Mosby, 1998:1201-1250.
9.
9. DeLange M, Rouse GA: Prenatal diagnosis of hypophosphatasia. J Ultrasound Med1990;9:115-117.
