The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency variable degree. All were identified to carry a gain−of−function mutation in BRAF.

Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele.

how to cite this article: fadakar k, dadkhahfar s, esmaeili a, keyhanidoust z. a case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. iran j child neurol autumn 2012; 6(4):47-50.   abstract schizencephaly is a rare central nervous system disorder with variable presentations. here we report a patient with a huge bilateral schizencephaly and septo-optic dysplas...

The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...

Rhythmic medial septal (MS) GABAergic input coordinates cortical theta oscillations. However, the rules of innervation of cortical cells and regions by diverse septal neurons are unknown. We report a specialized population of septal GABAergic neurons, the Teevra cells, selectively innervating the hippocampal CA3 area bypassing CA1, CA2, and the dentate gyrus. Parvalbumin-immunopositive Teevra c...