Download or read book Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. written by Dr. Hakim. K. Saboowala and published by Dr.Hakim Saboowala. This book was released on with total page 37 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. This clinical scenario, already reported in 1949, was recognized as an entity distinct from congenital infections. An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. Further patient study demonstrated other less consistent characteristics outside the classic triad of findings. These additional characteristics include: · Abnormal facies, · Cleft lip and palate, · Vertebral body abnormalities, and · Abnormalities of neuronal migration. Most children have a moderate to severe degree of mental retardation, although less severely affected children occasionally are described. An attempt has been made in this Booklet to describe Etiology, Molecular Pathogenesis, Prevalence etc. comprehensively for enthusiastic Medicos along with relevant ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)