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Glossy B Sabharwal

NOVA SPECIALITY SURGERY in partnership with JEEWAN MALA HOSPITAL NEW DELHI

Title: Antenatal ultrasound diagnosis of ‘Iniencephaly Apertus’

Biography

Abstract

Iniencephaly is a rare neural tube defect characterized by extreme retroflexion of the head with absence of the neck due to spinal deformities. The defective ‘inion’ (posterior most part of occipital bone) fuses with the back resulting in absence of neck and fixed retroflexion of head. Incidence in India is estimated to be 1 in 65,000 deliveries. Overall reported incidence is higher and ranges from 0.1 to 10 in 10,000 deliveries. Majority of cases are females (90%) as was the case. On antenatal ultrasonography, features that clinch the diagnosis of iniencephaly include deficit of occipital bone with an enlarged foramen magnum, fusion of malformed cervical and thoracic vertebrae, and upward turned face with chin being continuous with the chest because of absence of neck. This resembles a fetus in star gazing fixed position, therefore the name is “star gazing fetus”. Differential diagnoses include anencephaly with spinal retroflexion, Klippel-Fiel syndrome, nuchal tumors (e.g. teratoma, goiter, and lymphangioma), and Jarcho-Levin syndrome. It is presented a case of antenatal diagnosis iniencephalyapertus with discussion of the ultrasound features and postnatal clinical and radiological correlation.