A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.
In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.
Tütüncüoglu
S
S
Pediatrics Department, Ege University Hospital, Bornova, Izmir, Turkey.
Ozkinay
F
F
Genel
F
F
Uran
N
N
Ozgür
T
T
D061085:Agenesis of Corpus Callosum; D001927:Brain Diseases / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology; D004569:Electroencephalography; D005094:Exophthalmos / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D011596:Psychomotor Disorders / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*