Premium
A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip‐palate, exophthalmos and psychomotor retardation
Author(s) -
Tütüncüoglu S.,
Özkinay F.,
Genel F.,
Uran N.,
Özgür T.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03291.x
Subject(s) - microcephaly , dysgenesis , medicine , exophthalmos , corpus callosum , psychomotor learning , psychomotor retardation , pediatrics , anatomy , surgery , pathology , psychiatry , cognition , alternative medicine
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.