Fig. 1

Clinical, histological and genetic observations. a Color Doppler ultrasound revealed nuchal lymphatic hygroma of about 62 × 99 × 103 mm as characterized by pathognomonic edema of the whole body. b Substantial pleural effusion and abdominal fluid of the fetus were also observed. c, d Autopsy data showed a huge nuchal cystic hygroma measured at 10 × 10 × 6 cm. e Webbed fingers and toes were also observed at autopsy. f, g pathological examination revealed severe placental chorioamnionitis. h Chromosomal karyotype analysis of the fetal buttock muscle tissue showed chromosome X deletion (45X)