Probable Opitz trigonocephaly C syndrome with medulloblastoma

Am J Med Genet. 1997 Apr 14;69(4):395-9.


We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Cerebellar Neoplasms / complications*
  • Cerebellar Neoplasms / diagnostic imaging
  • Fatal Outcome
  • Humans
  • Magnetic Resonance Imaging
  • Medulloblastoma / complications*
  • Medulloblastoma / diagnostic imaging
  • Radiography
  • Syndrome