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Probable Opitz trigonocephaly C syndrome with medulloblastoma

✍ Scribed by Omran, Heymut; Hildebrandt, Friedhelm; Korinthenberg, Rudolf; Brandis, Matthias

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 515 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970414)69:4<395::aid-ajmg11>3.0.co;2-i

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✦ Synopsis

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.

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