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Temtamy syndrome is a congenital syndrome. It was first described by Temtamy et al. in 1991. Characterized by mental retardation, ocular coloboma, seizures, variable craniofacial dysmorphism, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. The extreme clinical and genetic heterogeneity of these phenotypes posed a major diagnostic challenge until the advent of genomic tests that scan a large number of genes with little bias by the clinical phenotype.
Materials and Methods: We reporting the case of a male child aged followed since the age of 3 months for epileptic seizure with corpus callosum agenesis, and clinical examination found craniofacial dysmorphia, mental retardation, strong myopia, an irian coloboma, chorioretinal atrophy. The aim of this study is to highlighting the specific features of temtamy syndrome and show the points of divergence with other similar syndromes.
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