S. Tutuncuoglu et al., A CASE-REPORT - CORPUS-CALLOSUM DYSGENESIS, MICROCEPHALY, INFANTILE SPASM, CLEFT LIP-PALATE, EXOPHTHALMOS AND PSYCHOMOTOR RETARDATION, Clinical genetics, 49(4), 1996, pp. 220-222
In this report, a case with corpus callosum dysgenesis, infantile spas
m, microcephaly, psychomotor retardation, exophthalmos, cleft lip-pala
te and abnormal EEG findings is presented. His parents are first-degre
e relatives. We could not fully match the findings of our patient with
the criteria of any syndrome published to date.