CONCOMITANT CRANIORACHISCHISIS AND OMPHALOCELE IN A MALE FETUS: PRENATAL MAGNETIC RESONANCE IMAGING FINDINGS AND LITERATURE REVIEW

被引：5

作者：

Chen, Chih-Ping ^{[1
,2
,6
,7
]}

Liu, Yu-Peng ^{[8
]}

Tsai, Fuu-Jen ^{[4
,5
,6
]}

Chen, Chen-Yu ^{[1
]}

Lin, Hung-Hung ^{[1
]}

Wu, Pei-Chen ^{[1
]}

Wang, Wayseen ^{[2
,3
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

[4] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

[5] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan

[6] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[7] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[8] Mackay Mem Hosp, Dept Radiol, Taipei, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2009年 / 48卷 / 03期

关键词：

craniorachischisis; iniencephaly; magnetic resonance imaging; neural tube defect; omphalocele; prenatal diagnosis; BODY-WALL COMPLEX; SCHISIS-ASSOCIATION; BIRTH-DEFECTS; LIMB; DIAGNOSIS; PENTALOGY; ANOMALIES; CANTRELL;

D O I：

10.1016/S1028-4559(09)60306-5

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis. Case Report: A 20-year-old, gravida 2, para 0, woman was referred to genetic counseling at 17 weeks of gestation because of multiple congenital malformations in the fetus. Level II ultrasound revealed acrania, a ventricular septal defect, an upward-turned face, and omphalocele containing the intestines. MRI revealed normal extremities, exencephaly, hyperextension of the fetal head, significant shortening of the spinal column, marked lordosis and hyperextension of the malformed spine, an upward-turned face, and absence of a neck. A diagnosis of iniencephaly associated with anencephaly, rachischisis and omphalocele was made. Amniocentesis revealed a karyotype of 46,XY. Postnatal X-ray showed anencephaly with total spina bifida of the cervical and thoracic spine. Conclusion: Prenatal MRI is able to provide a clear whole-body image of the fetus and its relationship with the placenta. Prenatal MRI is very useful in the differential diagnosis of concomitant craniorachischisis and omphalocele from amniotic band sequence, limb body-wall complex with craniofacial defect and Disorganization human homologue. [Taiwan J Obstet Gynecol 2009;48(3):286-291]

引用

页码：286 / 291

页数：6