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1968年Maleblanche首次报告骨发育不良。本病系以多发性骨折为主,预后严重不良的全身骨骼疾患,因而产前诊断极有意义。现作者报告二例。例1,28岁;曾怀孕两次均未育,现因停经诊断为妊娠7周。30周时行B超检查发现胎儿头横径9.1cm,异常增大,股骨难以识别。腹部X线摄影见胎儿骨阴影淡薄,确认困难,高度怀疑为骨发育不良,但未入院。例2,28岁;1988年曾正常分娩一女,发育正常。1991年4月2日因停经诊断妊娠10周5天。在25周、31周和33周时分别行B超检查,均示股骨长度测定困难。35周对X线摄影见胎儿脊椎、骨盆、股骨等骨密度淡薄;B超发现头横径增大,脑回明显;CT扫描颅顶骨变形,脑积水。羊水胎儿造影示胎头稍大,上、下肢粗短,右下肢变形,皮下脂肪厚,高度怀疑为骨发育不良。第37周经阴道诱导分娩一女婴,发育欠成熟。体重:2.
1968 Maleblanche first reported bone dysplasia. The disease is mainly to multiple fractures, the prognosis of severe systemic bone disease, so prenatal diagnosis makes a lot of sense. The author reports two cases. Cases 1,28 years old; had not pregnant twice pregnant, are diagnosed as menopause 7 weeks of pregnancy. 30 weeks after line B ultrasound examination fetal head diameter 9.1cm, abnormal increase, difficult to identify the femur. Abdominal X-ray film to see the faint shadow of the fetus, to confirm difficulties, highly suspected bone dysplasia, but not hospitalized. Example 2,28 years old; normal childbirth in 1988, normal development. April 2, 1991 diagnosis of menopause 10 weeks and 5 days. B-ultrasound was performed at weeks 25, 31, and 33, respectively, indicating difficulty in measuring the length of the femur. 35 weeks of X-ray photography showed fetal spine, pelvis, femur and other bone mineral density was thin; B-found head diameter increased, significant back to the brain; CT scan cranial deformity, hydrocephalus. Fetal amniotic fluid imaging shows a slightly larger head, upper and lower limbs stubby, lower right limb deformation, subcutaneous fat, highly suspected bone dysplasia. The first 37 weeks of vaginal delivery of a baby girl, development is less mature. Weight: 2.