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ultrasound diagnosis of fatal anomalies

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SKELETAL ANOMALIES

Fig. 8.19 Osteogenesis imperfecta. Fetal leg with

shortening and bowing of the long bones at

23 + 1 weeks.

Fig. 8.20 Osteogenesis imperfecta. Fetal femur at

13+4weeks.Completechange of axis due to a fracture.

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References

Aylsworth AS, Seeds JW Guilford WB, Burns CB, Vashburn

DB. Prenatal diagnosis of a severe deforming

type of osteogenesis imperfecta. Am J Med Genet

1984; 19: 707–14.

Chalubinski K, Plenk HI, Schaller A. Prenatal diagnosis of

osteogenesis imperfecta: report of a case classified

as the classical Vrolik lethal type. Ultraschall Med

1995; 16: 25–8.

Chang LW, Chang CH, Yu CH, Chang FM. Three-dimensional

ultrasonography of osteogenesis imperfecta at

early pregnancy. Prenat Diagn 2002; 22: 77–8.

DiMaio MS, Barth R, Koprivnikar KE. First-trimester prenatal

diagnosis of osteogenesis imperfecta type II by

DNA analysis and sonography. Prenat Diagn 1993;

13: 589–96.

Gabrielli S, Falco P, Pilu G, Perolo A, Milano V, Bovicelli L.

Can transvaginal fetal biometry be considered a useful

tool for early detection of skeletal dysplasias in

high-risk patients? Ultrasound Obstet Gynecol 1999;

13: 107–11.

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