Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review.

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.