孕妇年龄28岁,身体健康,非近亲结婚.末次月经2013年11月24日,孕12周在外院超声检查提示颅骨光环不完整,双肾体积增大转来本院.孕13周在本院行超声检查:胎儿头臀长6.9 cm,枕部颅骨缺损并脑组织膨出,四腔心切面房间隔、室间隔均未显示,仅...孕妇年龄28岁,身体健康,非近亲结婚.末次月经2013年11月24日,孕12周在外院超声检查提示颅骨光环不完整,双肾体积增大转来本院.孕13周在本院行超声检查:胎儿头臀长6.9 cm,枕部颅骨缺损并脑组织膨出,四腔心切面房间隔、室间隔均未显示,仅见一组房室瓣;双肾体积增大,内充满大小不等的囊腔,符合Meckel-Gruber综合征.收入院给予米非司酮加米索药物引产.2014年3月7日流产一死婴,外观枕骨缺损,脑组织已流出,硬腭裂,腹部明显增大,双手双足均为6指(趾),见图1.尸检见胎儿单心房、单心室,双肾均增大约1.8 cm ×1.2 cm ×1.2 cm,切面为多囊状.诊断:Meckel-Gruber综合征.展开更多
Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and posta...Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and postaxial polydactyly.It can variably be associated with other malformations such as cleft lip and palate,pulmonary hypoplasia,hepatic fibrosis,and anomalies of central nervous system.A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly,microphthalmia,hypertelorism,cleft lip and palate,neonatal teeth,and the right side club foot which were detected only after doing autopsy.This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death,especially where the antenatal diagnosis has not been made previously.A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.展开更多
文摘孕妇年龄28岁,身体健康,非近亲结婚.末次月经2013年11月24日,孕12周在外院超声检查提示颅骨光环不完整,双肾体积增大转来本院.孕13周在本院行超声检查:胎儿头臀长6.9 cm,枕部颅骨缺损并脑组织膨出,四腔心切面房间隔、室间隔均未显示,仅见一组房室瓣;双肾体积增大,内充满大小不等的囊腔,符合Meckel-Gruber综合征.收入院给予米非司酮加米索药物引产.2014年3月7日流产一死婴,外观枕骨缺损,脑组织已流出,硬腭裂,腹部明显增大,双手双足均为6指(趾),见图1.尸检见胎儿单心房、单心室,双肾均增大约1.8 cm ×1.2 cm ×1.2 cm,切面为多囊状.诊断:Meckel-Gruber综合征.
文摘Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and postaxial polydactyly.It can variably be associated with other malformations such as cleft lip and palate,pulmonary hypoplasia,hepatic fibrosis,and anomalies of central nervous system.A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly,microphthalmia,hypertelorism,cleft lip and palate,neonatal teeth,and the right side club foot which were detected only after doing autopsy.This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death,especially where the antenatal diagnosis has not been made previously.A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.
