Bulas D I, Stern H J, Rosenbaum K N, Fonda J A, Glass R B, Tifft C
Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010.
J Ultrasound Med. 1994 Jun;13(6):419-27. doi: 10.7863/jum.1994.13.6.419.
Osteogenesis imperfecta is a heterogeneous group of disorders of type I collagen with both lethal and nonlethal forms. Prenatal sonographic findings in affected fetuses are variable and depend on the severity of the disease. Six cases of osteogenesis imperfecta in which prenatal sonography had been performed were reviewed. Two cases of lethal type II osteogenesis imperfecta revealed short femurs at 16 to 17 weeks' gestation with development of bowing and fractures by 19 weeks' gestation. Four fetuses with the nonlethal type III or IV had femoral bowing with or without shortening in the late second or third trimester with grossly normal mineralization. Fractures in this latter group did not develop until 1 to 12 months after delivery. Understanding the progressive nature and variability of osteogenesis imperfecta is crucial in the prenatal diagnosis and management of this disease.
成骨不全是一组异质性的I型胶原蛋白疾病，有致死型和非致死型。受影响胎儿的产前超声检查结果各不相同，取决于疾病的严重程度。回顾了6例进行过产前超声检查的成骨不全病例。2例致死性II型成骨不全在妊娠16至17周时显示股骨短，到妊娠19周时出现弯曲和骨折。4例非致死性III型或IV型胎儿在妊娠晚期的第二个或第三个阶段有股骨弯曲，有或没有缩短，矿化大致正常。后一组胎儿的骨折直到出生后1至12个月才出现。了解成骨不全的进展性质和变异性对于该疾病的产前诊断和管理至关重要。
