A case report: Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation


TUTUNCUOGLU S., Ozkinay F. F. , GENEL F., URAN N., OZGUR T.

CLINICAL GENETICS, vol.49, no.4, pp.220-222, 1996 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 4
  • Publication Date: 1996
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.220-222

Abstract

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.