FRONTONASAL DYSPLASIA, LIPOMA OF THE CORPUS-CALLOSUM AND TETRALOGY OFFALLOT

A 6-year-old Egyptian boy with frontonasal dysplasia (FND) and lipoma of the corpus callosum associated with tetralogy of Fallot is reported . The main features were severe hypertelorism, downward slanted palpeb ral fissures, bilateral epicanthal folds, a grossly deformed nose with notched alae nasi, absent nasal tip and long philtrum. A computerized tomography (CT) scan of the brain showed cerebral atrophy and lipoma of the corpus callosum. While marked neurological symptoms have been r eported in cases with lipoma of the corpus callosum in the absence of FND, the present case and previous reports showed minor neurological a lterations when lipoma of the corpus callosum was associated with FND. From the findings in this case and previous reports, it is possible t o conclude that lipoma of the corpus callosum associated with FND is a lways located in the anterior part of the corpus callosum. The etiolog y of FND remains uncertain. While multifactorial inheritance has been proposed, parental consanguinity with young parental age in the presen t case cannot exclude autosomal recessive inheritance.