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

Clin Genet. 1996 Apr;49(4):220-2. doi: 10.1111/j.1399-0004.1996.tb03291.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Brain Diseases / genetics
  • Cleft Lip / genetics
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • Consanguinity
  • Corpus Callosum / pathology
  • Electroencephalography
  • Exophthalmos / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics*
  • Myocardium / pathology
  • Psychomotor Disorders / genetics*
  • Spasms, Infantile / genetics*