Affiliation:
1. ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE
2. ANKARA ÜNİVERSİTESİ, ANKARA TIP FAKÜLTESİ
Abstract
Objective: Craniorachischisis is a rare and severe variant of neural tube defects (NTDs). It occurs in 0.51 of every 10,000 pregnancies. There is no reported etiology for this fetal abnormality. It frequently coexists with other anomalies and is believed to result from a genetic defect. To our knowledge, this report will be the first reported from a single institution in the literature on craniorachischisis.
Material and methods: We present six cases diagnosed with craniorachisis in our clinic in the last 13 years, whose definitive diagnosis was clarified by necroscopy.
Results: Craniorachisis is still a vital anomaly because it is a severe anomaly itself and the rate of accompanying other abnormalities is high. Fully elucidating the cause can also be a guide for other.
Conclusion: Craniorachischisis can be diagnosed in the first trimester. The vertebral column should especially be examined in patients diagnosed with exencephaly. The heart, extremities, and thoracic-abdomen should be carefully examined when craniorachischisis is diagnosed. The rate of other anomalies accompanying is high. In future research, if the cause of craniorachischisis is understood, it will provide an understanding of the cause of other accompanying this anomaly.
Publisher
Ministry of Health, Ankara City Hospital