Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele

J Maxillofac Oral Surg. 2015 Mar;14(Suppl 1):457-61. doi: 10.1007/s12663-014-0675-z. Epub 2014 Aug 3.

Abstract

Septo-optic dysplasia complex (SODC) is a rare congenital anomaly, characterized with absence of septum pellucidum, optic nerve hypoplasia with or without pituitary dysfunction. Various midline defects are also associated with SODC in addition to its classical findings. We report, for the first time a rare presentation of SODC which is associated with pre-maxillary agenesis along with sphenoidal encephalocele and omphalocele. The case showed resulting median cleft lip and palate along with other multiple congenital defects including hydrocele, inguinal hernia, micropenis and a wide mediastinum.

Keywords: Cleft lip palate; Corpus callosum agenesis; Encephalocele; Hydrocele; Omphalocele; Septo-optic dysplasia complex.

Publication types

  • Case Reports