Iniencephaly: a rare birth defect

Abstract

Iniencephaly is form of neural tube defect which includes occipital bone defect at foramen magnum along with fixed retroflexion of fetal head and absence of fetal neck. Incidence of iniencephaly is 0.1-10 in 10,000 pregnancies. There is a known female predilection for this condition. Iniencephaly has a poor prognosis. It can be diagnosed antenatally by raised maternal serum alpha-fetoprotein and typical ultrasound features. Termination should be advised to patients who present before 20 weeks. Herein we are describing a case of iniencephaly who presented at 27 weeks of gestation with a brief review of literature.

Iniencephaly

“…Its risk factors include low socioeconomic conditions, obesity, poor folic acid intake prior to conception and during pregnancy, drugs (such as antihistamines, sulphonamides and tetracyclines), methylenetetrahydrofolate reductase gene (MTHFR) C677T mutation, hyperhomocysteinemia and chromosomal defects such as monosomy X, trisomy 13 and 18. 3,4 It is associated with multiple anomalies, including anencephaly, hydrocephalus, cardiac septal defects, cleft lip and palate, pulmonary hypoplasia, genital malformations and skeletal abnormalities. 5 In the present case; obesity, poor socioeconomic conditions and female fetal sex, were important risk factors.…”