Craniorachischisis, also known as craniorachischisis totalis, is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida.
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Epidemiology
In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in a Texas-Mexico border population 1.
Clinical presentation
The condition is often fatal in utero. Other conditions and syndromes have been reported including, pentalogy of Cantrell and trisomy 18 2.
Pathology
Anencephaly and spina bifida are present in craniorachischisis. The risk factors for neural tube defects are the same as for craniorachischisis. Recent studies have shown that mutations in the SCRIB and CELSR1 genes may be associated with craniorachischisis specifically 3.
Radiographic features
Craniorachischisis is visible on antenatal ultrasound 2.
Treatment and prognosis
Prognosis is poor and death often occurs in utero however live births are possible 1,2.
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