死婴男性,新生儿。因脐带脱垂,急诊行剖宫术。新生儿重度窒息,全身水肿,胸腹片提示先天性脊柱裂(颈胸段),内脏畸形;家属放弃抢救而死亡。其母孕期中未进行过任何遗传学方面的检查。病理检查巨检:男婴尸体,重4·6 kg,身长47 cm,头围21 cm。发育尚可,头颈部、躯干及四肢未见畸形 Baby boy male, newborn. Due to umbilical cord prolapse, emergency cesarean section. Neonatal severe asphyxia, body edema, chest and abdomen prompted congenital spina bifida (neck thoracic), visceral deformity; relatives to give up rescue and death. Her mother did not carry out any genetic tests during pregnancy. Pathological examination giant examination: the baby boy body weight of 4 · 6 kg, length 47 cm, head circumference 21 cm. Development is acceptable, head and neck, torso and limbs without deformity