胎儿肢体屈曲症畸形的超声诊断

Ultrasonic diagnosis of fetal campthomelia disease

目的探讨肢体屈曲症(CD)的超声特点、诊断及预后。方法选择门诊超声检查发现的2例肢体屈曲症胎儿的影像资料进行影像诊断特点回顾性分析。结果 2例肢体屈曲症畸形,均为双侧下肢骨骼畸形,上肢骨骼长度形态正常。其中轻型患儿仅表现为股骨近段弯曲,其他结构无明显异常,至孕晚期,出现羊水过多表现,同时伴有颅骨形态异常。重症患儿存在明显股骨、胫腓骨弯曲,合并有足内翻畸形及胸腔狭窄,在孕晚期也出现了羊水过多表现。结论肢体屈曲症(CD)是一种罕见且预后极差的先天畸形,超声检查可以在产前及时准确地对本病做出诊断,超声检查是目前发现并诊断本病的最佳检查方法。

Objective To discuss the characteristics, diagnosis and prognosis, of eampthomelia disease （CD）. Methods We selected 2 imagings of campthomelia disease outpatients after ultrasound examination and made retrospective analysis on the characteristics. Results In 2 cases of campthomelia disease, their double-sided lower limb skeletal were malformations, their upper extremity bone length was normal. It showed that only the proximal part of the femur bending in children with light disease and other structures without significant abnormality, until late pregnancy, the polyhydramnios appeared. It ac- companied by morphological abnormalities of the skull. The severe children patients with significant tibia and fibula bending. They also had the characters of varus deformity and thoracic stenosis, the polyhydramnios also appeared. Conclusion The campthomelia disease （CD） is a rare congenital malformations with very poor prognosis, the prenatal ultrasound examination can accurately make a diagnosis for this disease. The ultrasound is the best inspection method for detection and diagnosis of the disease.