Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot.
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 palpebral 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 reported in cases with lipoma of the corpus callosum in the absence of FND, the present case and previous reports showed minor neurological alterations when lipoma of the corpus callosum was associated with FND. From the findings in this case and previous reports, it is possible to conclude that lipoma of the corpus callosum associated with FND is always located in the anterior part of the corpus callosum. The etiology of FND remains uncertain. While multifactorial inheritance has been proposed, parental consanguinity with young parental age in the present case cannot exclude autosomal recessive inheritance.
Meguid
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Human Genetics Department, National Research Center, Cairo, Egypt.
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental; D001932:Brain Neoplasms; D002648:Child; D003337:Corpus Callosum; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008067:Lipoma; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot