胎儿无下颌并耳畸形超声表现1例

2019-11-15 童立里 费智慧 临床超声医学杂志

孕妇,33岁,孕2产1,孕25周。本次妊娠为5年冻胚,孕期无特殊病史,未行产前血清学筛查。超声检查:双顶径4.5 cm,头围15.9 cm,小脑横径2.5 cm,腹围19.8 cm,股骨长4.1 cm,肱骨长3.8 cm。颅内仅见单一脑室,丘脑融合,小脑呈香蕉征,颅后窝不清。面部仅见左侧眼球,右侧未见眼球;鼻孔、下颌显示不清(图1)。

孕妇,33岁,孕2产1,孕25周。本次妊娠为5年冻胚,孕期无特殊病史,未行产前血清学筛查。超声检查:双顶径4.5 cm,头围15.9 cm,小脑横径2.5 cm,腹围19.8 cm,股骨长4.1 cm,肱骨长3.8 cm。颅内仅见单一脑室,丘脑融合,小脑呈香蕉征,颅后窝不清。面部仅见左侧眼球,右侧未见眼球;鼻孔、下颌显示不清(图1)。


图1 无下颌并耳畸形胎儿面部四维成像图
 
脊柱排列不整齐。胎儿腹主动脉、下腔静脉均位于脊柱右侧,二者呈前后并列关系,肝脏胆囊位置正常,泡显示不清,左上腹相当于脾脏位置可见半月形稍高回声区,类似脾脏;CDFI:可见脾门条状血流信号。心尖朝向右侧,四腔心切面示右侧心室狭小,房室之间未见瓣膜启闭,左侧房室宽大,房室瓣活动自如,可见一根大血管自左侧心室发出,弓形向上可见“三毛征”,于主干左后方可见一根内径0.25 cm的血管,且分叉进入左右肺,卵圆孔0.8 cm,卵圆瓣位于左房内活动,可见肺静脉汇入内径0.32 cm肺总静脉后汇入右侧心房。左肾大小约4.5 cm×3.7 cm,内可见多个囊性无回声区,囊与囊之间未见明显相通,肾实质内血流信号稀少。仅见1根脐动脉。羊水指数21.4 cm。
 
超声提示:宫内妊娠25周,单活胎,双顶径和头围测值相当于19+周,余测值相当于23+周;胎儿无叶全前脑,右侧无眼球、下颌,鼻孔不清,左侧多囊性发育不良肾,脊柱排列不整齐;羊水过多、单脐动脉;心脏畸形:考虑右位心、右室发育不良、永存动脉干(Ⅰ型)、肺静脉异位引流。
 
后引产一男死胎,右眼有眼睑,无眼球,左眼正常。未见正常鼻孔,鼻与人中交界处见一小凹,其左上方另见一小凹,不通畅。小嘴,无下颌,颈前区靠近中线两侧分别见大小不一扇形皮肤皱褶,疑低位双耳(图2)。


图2 无下颌并耳畸形产后面部图
 
尸体解剖:胸腔左右肺均为单叶,右旋心,左心耳呈弯指状,右心耳呈三角形,永存动脉干(Ⅱ型),右位主动脉弓分出左右头臂干,再分别发出颈总动脉与锁骨下动脉,单心室,左右各两支肺静脉汇成肺总静脉后汇入右侧心房,泡位于左侧腹腔,大小正常,肝、胆、右肾及肠道均在正常位置,未见脾脏,左肾上腺明显增大,左侧多囊性发育不良肾,左输尿管不清楚。生殖器及四肢正常。
 
讨论:
 
无下颌并耳畸形又称为耳头畸形,可能是在妊娠4~5周,由于神经嵴间质迁移到上颌突的失败所致,目前尚无特定的基因检测用于确诊该畸形。耳朵的低位或中线位置是诊断的关键,三维超声有利于该特征的可视化观察。临床需与鸟面综合征、眼-耳-脊椎发育不良综合征等与小下颌相关的其他综合征相鉴别。
 
本例胎儿除了严重的颜面部畸形外,还合并无叶全前脑、脊柱裂、复杂心脏结构畸形(右旋心、单心室、永存动脉干、完全性肺静脉异位引流、右位主动脉弓)、双肺无分叶、无脾及左肾多囊性发育不良,由于对该罕见畸形认识不够,未观察到向中线移位的发育不良低位耳导致产前超声未明确诊断
 
产前超声未显示胃泡,可能与胎儿无下颌、小口所致吞咽障碍,胃泡不充盈有关;胎儿左上腹半月形高回声区经尸体解剖证实为增大的肾上腺,正常胎儿脾脏回声应稍低。综上所述,无下颌并耳畸形因常合并其他严重畸形预后极差,少数孤立性无下颌并耳畸形活产患儿可因呼吸困难死亡。超声有助于其产前明确诊断,有利于给孕妇及其家属提供合理的咨询,以便做出恰当选择。
 
原始出处:

童立里,费智慧.胎儿无下颌并耳畸形超声表现1例[J].临床超声医学杂志,2018,20(06):433.

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    2020-04-05 xlysu
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    2019-11-17 wushaoling
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    2019-11-15 14794e5bm67(暂无昵称)

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