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Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.
Am J Med Genet. 1989 Oct; 34(2):202-6.AJ

Abstract

We report on a boy with absent radii and intermittent thrombocytopenia. He has many other manifestations of the thrombocytopenia absent radius (TAR) syndrome but in addition has manifestations not previously described: palatoschisis of the soft palate, subcricoid stenosis, duodenal atresia and extreme sensitivity of chromosomes to X-rays. Our patient could either represent a unique condition or unusual variability of TAR syndrome.

Authors+Show Affiliations

Clinical Genetics Center, University Hospital Leiden, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2816998

Citation

van Haeringen, A, et al. "Intermittent Thrombocytopenia and Absent Radii: Report of a Patient With Additional Unusual Manifestations." American Journal of Medical Genetics, vol. 34, no. 2, 1989, pp. 202-6.
van Haeringen A, Veenstra F, Maaswinkel-Mooij PD, et al. Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. Am J Med Genet. 1989;34(2):202-6.
van Haeringen, A., Veenstra, F., Maaswinkel-Mooij, P. D., & van de Kamp, J. J. (1989). Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. American Journal of Medical Genetics, 34(2), 202-6.
van Haeringen A, et al. Intermittent Thrombocytopenia and Absent Radii: Report of a Patient With Additional Unusual Manifestations. Am J Med Genet. 1989;34(2):202-6. PubMed PMID: 2816998.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. AU - van Haeringen,A, AU - Veenstra,F, AU - Maaswinkel-Mooij,P D, AU - van de Kamp,J J, PY - 1989/10/1/pubmed PY - 1989/10/1/medline PY - 1989/10/1/entrez SP - 202 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 34 IS - 2 N2 - We report on a boy with absent radii and intermittent thrombocytopenia. He has many other manifestations of the thrombocytopenia absent radius (TAR) syndrome but in addition has manifestations not previously described: palatoschisis of the soft palate, subcricoid stenosis, duodenal atresia and extreme sensitivity of chromosomes to X-rays. Our patient could either represent a unique condition or unusual variability of TAR syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2816998/Intermittent_thrombocytopenia_and_absent_radii:_report_of_a_patient_with_additional_unusual_manifestations_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=34&issue=2&spage=202 DB - PRIME DP - Unbound Medicine ER -