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Title: Probable Opitz trigonocephaly C syndrome with medulloblastoma

Abstract

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. 33 refs., 4 figs., 1 tab.

Authors:
; ;  [1]
  1. Freiburg Univ. (Germany) [and others
Publication Date:
OSTI Identifier:
539213
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 69; Journal Issue: 4; Other Information: PBD: 14 Apr 1997
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HEREDITARY DISEASES; DIAGNOSIS; PATIENTS; CONGENITAL MALFORMATIONS; MENTAL DISORDERS; PHENOTYPE; HUMAN CHROMOSOME 3; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; ANEUPLOIDY; GENES; GENE MUTATIONS

Citation Formats

Omran, H., Hildebrandt, F., and Brandis, M. Probable Opitz trigonocephaly C syndrome with medulloblastoma. United States: N. p., 1997. Web. doi:10.1002/(SICI)1096-8628(19970414)69:4<395::AID-AJMG11>3.3.CO;2-M.
Omran, H., Hildebrandt, F., & Brandis, M. Probable Opitz trigonocephaly C syndrome with medulloblastoma. United States. doi:10.1002/(SICI)1096-8628(19970414)69:4<395::AID-AJMG11>3.3.CO;2-M.
Omran, H., Hildebrandt, F., and Brandis, M. Mon . "Probable Opitz trigonocephaly C syndrome with medulloblastoma". United States. doi:10.1002/(SICI)1096-8628(19970414)69:4<395::AID-AJMG11>3.3.CO;2-M.
@article{osti_539213,
title = {Probable Opitz trigonocephaly C syndrome with medulloblastoma},
author = {Omran, H. and Hildebrandt, F. and Brandis, M.},
abstractNote = {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. 33 refs., 4 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19970414)69:4<395::AID-AJMG11>3.3.CO;2-M},
journal = {American Journal of Medical Genetics},
number = 4,
volume = 69,
place = {United States},
year = {1997},
month = {4}
}