Alvis-Miranda HR
; Bula-Anichiarico DA
; Calderón-Miranda WG
; Moscote-Salazar LR
J Pediatr Neurosci
2015[Apr]; 10
(2
): 181-4
PMID26167231
show ga
The iniencephaly involves a variable defect in the occipital bone, resulting in a
large foramen magnum, partial or total absence of the cervical and thoracic
vertebrae, accompanied by incomplete closure of arcs and/or vertebral bodies,
significant shortening of the spinal column and hyperextension of the malformed
cervicothoracic spine; the individual's face is deviated upward, the mandibular
skin is directly continuous with anterior thorax due to the absence of neck. Its
incidence is about 1:1000-1:2000 births, so this is a pretty rare neural tube
defect. We present a case of iniencephaly in association with cardiovascular,
spinal cord, and intracranial malformations that ended demonstrating the low
survival of patients affected with this condition.