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【读片】产科疑难超声病例（302）：Cerebro-oculo-nasal（脑-眼-鼻）综合症

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Case report

>>> 9月29日公布答案，敬请关注。 >>>>点此查看答案

>>>本病例加分标准：根据答案，凡是答对四个知识点的加1分。有异议者PM我。

>>> 为保证每人均能独立分析，公布答案前此贴设置为回帖别人不可见状态。公布答案后恢复。

>>> 凡是答对或答案接近者均会加分；另外对于难度较大的病例即便答案错误，但在病例分析过程中能充分表达自己观点的也可给予加分鼓励。

This is a case of a 28-year-old G3 P0. Her first pregnancy was terminated for trisomy 21 and the second pregnancy resulted in a spontaneous abortion.
The beginning of this pregnancy was uneventful. The first trimester scan was negative, NT=1 mm, the triple test was normal and fetal karyotype was normal as well, 46 XX.
The ultrasound exam at 22 weeks of gestation was reported as normal.
Patient was referred to our department at 28 weeks of gestation and her ultrasound exam revealed the following findings:
患者28岁，G3P0，其第一次妊娠因21三体而终止，第二次妊娠出现自然流产。此次妊娠起初未见异常，早妊筛查正常，NT1mm，三联试验结果正常，胎儿核型也正常，为46XX。孕22周超声检查报告正常。患者孕28周来我处检查，超声表现如下：

Images 1-10: 28 weeks.

Images 11-18: 29 weeks.

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2011-09-15 22:10 浏览 : 18793 回复 : 263

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xihuansushi 编辑于 2011-10-14 21:05

• 烂进膝关节的痛风石，都是年轻时大量喝啤酒惹的祸

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This is a case of a 28-year-old G3 P0. Her first pregnancy was terminated for the trisomy 21 and the second pregnancy resulted in a spontaneous abortion. This pregnancy was uneventful at the beginning. The first trimester scan was negative, NT=1 mm, the triple test was normal and fetal karyotype was normal as well, 46 XX. The ultrasound exam at 22 weeks of gestation was reported as normal. Patient was referred to our department at 28 weeks of gestation and her ultrasound exam revealed the following findings:
患者28岁，G3P0，其第一次妊娠因21三体而终止，第二次妊娠出现自然流产。此次妊娠起初未见异常，早妊筛查正常，NT1mm，三联试验结果正常，胎儿核型也正常，为46XX。孕22周超声检查报告正常。患者孕28周来我处检查，超声表现如下

Facial dysmorphic features - frontal bossing, anophthalmia on the right, midline cleft lip, single nostril
Low set, malformed right ear
Fusion of thalami and monoventricle
面部异常表现：额部隆起、右侧眼球缺失、正中唇裂以及单鼻孔
右耳异常并低位
丘脑融合以及单脑室

The follow-up ultrasound at 29 weeks confirmed the previous findings. The intracranial findings suggested some form of holoprosencephaly. Coronal views showed nearly median cleft lip and a single nostril. Both hands, feet and heart did not show any abnormalities.
孕29周复查时仍存在上述表现。颅内的表现提示为前脑无裂畸形的某种类型，额妆面显示正中唇裂以及单鼻孔。双侧手足以及心脏未发现异常。

The couple was counceled and decided for the pregnancy termination based on the unfavorable prognosis for the fetus.The pathology and MRI examination after pregnancy termination confirmed our ultrasound findings.
考虑到预后不良，患者决定终止妊娠。其后的病理及MRI检查证实了上述超声表现。

The final diagnosis was Cerebro-oculo-nasal syndrome. To eliminate a particular form of holoprosencephaly, routine laboratory blood tests and G-banded chromosome were done : SHH (Sonic Hedgehog), ZIC2, SIX3 and TGIF, PTCH, GLI2, TMEM1 AND FBXW11 mutational analysis were performed and no mutations were discovered. DNA Microarray revealed a 108 Kb duplication of the region on the chromosome 7p22.1. This duplication involves gene RBAK which is responsible for the tumorigenesis and cell cycle control.
最终的诊断为Cerebro-oculo-nasal（脑-眼-鼻）综合症。为了与某类型的前脑无裂畸形鉴别，进行了常规血液实验室检查以及染色体G显带检查：SHH、ZIC2、SIX3、TGIF、PTCH、GLI2、TMEN1、FBXW11的突变分析，结果为发现有上述的基因突变。DNA微阵列显示染色体7p22.1区有108Kb的复制，此复制段累及负责肿瘤发生和细胞周期控制的RBAK基因。

Images 1-4: 28 weeks, images show an extreme frontal bossing, abnormal facial profile, monoventricle.
图1-4显示额部隆起、面部异常以及单脑室。

Images 5-8: 3D-images showing the dysmorphic facial features, frontal bossing, midline cleft lip, the right eye seemed missing.
图5-8显示面部特异性三维征象，额部隆起、正中唇裂以及右侧眼球缺失。

Images 9,10: 3D-images of the malformed right ear which is small and low-set .
图9、10三维图像显示右耳小且低位。

Images 11,12: 29 weeks, image 11 shows the fused thalami and monoventricle. Image 12 shows the sagittal view of the brain with monoventricle.
图11显示丘脑融合以及单脑室；图12的脑部矢状面显示单脑室。
Images 13,14: Axial view of the fetal brain.
脑部轴切面。

Images 15,16: Image 15 shows the fused thalami. Image 16 shows the median cleft lip.
图15显示丘脑融合；图16显示正中唇裂。
Images 17,18: Image 17 shows a 3D-image of the midline cleft lip. Image 18 shows a normal looking hand.
图17显示正中唇裂的三维图；图18显示手掌正常。

Images 19,20: Images of the face, note the anophthalmia on the right, single nostril, midline cleft lip and malformed right ear. Fetal cranium is markedly enlarged.
面部图像，注意右眼缺失、单鼻孔、正中唇裂以及右耳异常。胎儿头部明显增大。

Images 21,22: Images show the normal looking left ear.
正常左耳。

Images 23-25: X-ray images showing abnormal cranium but no other skeletal malformations,
X线片显示颅骨异常而其他骨骼正常。

2011-09-30 21:08

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xihuansushi 编辑于 2011-09-30 21:35

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【读片】产科疑难超声病例（302）：Cerebro-oculo-nasal（脑-眼-鼻）综合症

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