Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...

The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient's outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum. To our knowledge, ...

how to cite this article: singhal r, pandit s, saini a, singh p, dhawan n. the acrocallosal syndrome in a neonate with further widening of phenotypic expression. iran j child neurol. 2014 spring;8(2):60-64.   the presentation of the typical characteristics of the acrocallosal syndrome (acls) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic cranio...

BACKGROUND AND PURPOSE There is gathering evidence to suggest that agenesis of the corpus callosum is associated with delayed fetal sulcation; it is possible that the corpus callosum facilitates normal gyral development. In this paper we sought to confirm whether delayed sulcation is found in fetuses with isolated agenesis of the corpus callosum as judged by in utero MR imaging. MATERIALS AND...

microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. it may be isolated or part of a syndrome with other associated anomalies. causes can be divided into environmental, heritable or unknown. some researchers believe that microphthalmia and anophthalmia belong to one family. unilateral and bilateral anophtalmia have been ...

OBJECTIVE The objectives are to analyse corpus callosum agenesis in children with various neurological problems in a hospital set-up, and to study the neurological and systemic abnormalities associated with this condition. METHODS The children with various neurological problems who underwent computerized tomography brain from January 1993 to December 1997, and were found to have corpus callos...

The post-natal development of 6 patients with complete agenesis of the corpus callosum was assessed. The diagnosis of agenesis of the corpus callosum had been suspected prenatally in 3 cases. In the remaining 3 cases diagnostic neuro-imaging was performed because of partial seizures (n = 2) and pendular nystagmus (n = 1). The neurological examination was normal in all patients with the exceptio...

A father and son with agenesis of the corpus callosum are described. An 11-year-old boy underwent clinical examination because of poor school performance. On physical and mental examinations he was normal, except for an enlarged head. Computerized tomographic (CT) scan showed agenesis of the corpus callosum. The patient's father also had an enlarged head. Although he had never had any symptoms,...