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, cilt.49, ss.220-222, 1996 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 49 Konu: 4
  • Basım Tarihi: 1996
  • Dergi Adı: CLINICAL GENETICS
  • Sayfa Sayıları: ss.220-222

Özet

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.