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.