Probable Opitz trigonocephaly C syndrome with medulloblastoma.
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.
Omran
H
H
University Chidren's Hospital, Freiburg University, Federal Republic of Germany.
Hildebrandt
F
F
Korinthenberg
R
R
Brandis
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D006801:Humans; D008279:Magnetic Resonance Imaging; D008527:Medulloblastoma / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome