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患儿,男,第1胎足月臀位助产术分娩,身长44cm,体重1.9kg,因出生时重度窒息,于生后第3天死亡。检查:前囟0.7cm×0.5cm,后囟已闭。右前臂及右手向挠侧弯曲,挠侧皮肤缩短,右拇指细弱呈自然下垂状。X光片显示右桡骨、全部右腕骨和第一掌骨缺如,右拇指骨2节细小无附着点。面部、躯干、左上肢和双下肢未见明显异常。尸解:右肺为2叶,其余脏器未见异常。外周血染色体检查为46,XY。根据颅缝早闭及桡、腕骨部分缺如,诊断为Baller-Gerold综合征。 Baller-Gerold综合征是一种罕见的先天性多发
Child, male, first full-term breech delivery Midwifery, length 44cm, weight 1.9kg, due to severe asphyxia at birth, died on the third day after birth. Check: anterior fontanel 0.7cm × 0.5cm, the posterior fontanelle closed. The right forearm and right hand flexed to the flexion side, the flexion side of the skin shortened, and the right thumb weakened in a natural droop. X-ray showed the right radius, all the right wrist and the first metacarpophalangeal absence, right thumb phalanx 2 small non-attachment points. Face, trunk, left upper limb and lower extremity no obvious abnormalities. Autopsy: the right lung is 2 leaves, the other organs were normal. Chromosome examination of peripheral blood 46, XY. According to craniosynostosis early closure and radial, carpal missing part of the diagnosis of Baller-Gerold syndrome. Baller-Gerold syndrome is a rare congenital multiple