A rare case of a fetal neural tube defect: Iniencephaly

Author(s): Sherif Elsirgany*, Sameh Salama, Mahmoud Al Alfy & Mona Aboulghar

Iniencephaly is characterized by severe retro flexion of the head with the absence of neck due to spinal vertebrae deformities, it is considered as uncommon anomaly.

Prevalence: 0.1-10:10,000, M:F.

Etiology: Unknown, but genetic, environmental factors are implicated.

Pathogenesis: Unknown.

Recurrence risk: 1-4%.

Associated anomalies: Anencephaly, encephalocele, cyclopedia, lack of lower jaw bone, cleft palate, arthrogryposis, clubfeet, holoprosencephaly, spina bifida, lung hypoplasia, omphalocele, gastroschisis, cardiovascular disorders, Congenital diaphragmatic hernias, gastrointestinal atresia, single umbilical artery and renal abnormalities.

Conclusion: Iniencephaly is a lethal congenital neural tube malformation. It is characterized by occipital bone defect, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine.

Differential diagnosis: Include anencephaly with cervical spinal retro flexion and Klippel-Fiel syndrome

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