Revista Colombiana de Obstetricia y Ginecología
versão impressa ISSN 0034-7434
SALDARRIAGA-GIL, Wilmar; RUIZ-MURCIA, Fabián Andrés e ISAZA, Carolina. Iniencephaly: first case reported in Colombia and literature review. Rev Colomb Obstet Ginecol [online]. 2011, vol.62, n.4, pp. 345-350. ISSN 0034-7434.
Introduction: iniencephaly is a rarely occurring defect of the neural tube, lacking established prevalence values to date. It is characterized by widening of the foramen magnum, rachischisis and marked retroflexion of the head. This article was aimed at reporting a case having classical findings of iniencephaly and providing a literature review. Materials and methods: the case of a newly born female is presented; her first-time mother was aged 14 and consulted a third level hospital mainly attending patients from the southwestern Colombian public healthcare network. The prenatal echography showed a fetus having a cervical/ thoracic vertebrae defect. The newborn was subjected to autopsy and radiographies, revealing classical anomalies regarding iniencephaly. A search was made of Medline databases via PubMed using the key word “iniencephaly”. Conclusion: this report’s importance lies in adding a new case of iniencephaly associated with meningocele and hypoplasia of the radius and ulna to the pertinent literature. It is the first case reported in Colombia.
Palavras-chave : iniencephaly; neural tube defect; Latin-American Congenital Malformation Collaborative Study (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas - ECLAMC).