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[成骨不全症的产前诊断。两例报告]

[Prenatal diagnosis of osteogenesis imperfecta. Two cases].

作者信息

Baalbaky I, Manouvrier S, Dufour P, Devismes L, Delzenne A, Boute O, Puech F

机构信息

Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, Lille.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1998 Jan;27(1):44-51.

PMID:9583044
Abstract

We report two cases of prenatal diagnosis of osteogenesis imperfecta (type S of Marotaux), diagnosed at 23 and 24 weeks of gestation, revealed by of an ultrasound scan which noted an abnormal femoral incurvation. The problem of differential diagnosis with other diseases causing femoral incurvation (notably campomelic dysplasia) is difficult, especially at early stage. This question is debated here. The interest to associate ultrasound scan and uterine contents radiography is so demonstrated.

摘要

我们报告两例产前诊断的成骨不全(马罗托克斯S型)病例,在妊娠23周和24周时诊断出来,通过超声扫描发现股骨弯曲异常而得以揭示。与其他导致股骨弯曲的疾病(尤其是弯肢性发育异常)进行鉴别诊断存在困难,特别是在早期阶段。本文对此问题进行了讨论。文中展示了联合使用超声扫描和子宫内容物X线摄影的益处。

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