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Iniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect
Lisandra Mendonça1, Isabel Cerveira1, Fernando Santos1
1Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.
Cureus
|January 10, 2025
Summary
Iniencephaly, a rare and fatal cranial defect, is diagnosed prenatally via ultrasound. Early diagnosis at 13 weeks allowed for timely termination of this neural tube defect.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Medicine
Background:
- Iniencephaly is a rare congenital malformation affecting the cranial base.
- It is associated with an extremely poor prognosis, often proving fatal.
- This condition falls under the spectrum of neural tube closure defects.
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