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Happle-Tinschert syndrome: report of a case with hemimegalencephaly.
Korean J Radiol. 2014 Jul-Aug; 15(4):534-7.KJ

Abstract

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Authors+Show Affiliations

Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.Department of Pathology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.Department of Dermatology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25053915

Citation

Özgur, Anıl, et al. "Happle-Tinschert Syndrome: Report of a Case With Hemimegalencephaly." Korean Journal of Radiology, vol. 15, no. 4, 2014, pp. 534-7.
Özgur A, Çabuk G, Arpacı R, et al. Happle-Tinschert syndrome: report of a case with hemimegalencephaly. Korean J Radiol. 2014;15(4):534-7.
Özgur, A., Çabuk, G., Arpacı, R., Baz, K., & Katar, D. (2014). Happle-Tinschert syndrome: report of a case with hemimegalencephaly. Korean Journal of Radiology, 15(4), 534-7. https://doi.org/10.3348/kjr.2014.15.4.534
Özgur A, et al. Happle-Tinschert Syndrome: Report of a Case With Hemimegalencephaly. Korean J Radiol. 2014 Jul-Aug;15(4):534-7. PubMed PMID: 25053915.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Happle-Tinschert syndrome: report of a case with hemimegalencephaly. AU - Özgur,Anıl, AU - Çabuk,Gonca, AU - Arpacı,Rabia, AU - Baz,Kıymet, AU - Katar,Demet, Y1 - 2014/07/09/ PY - 2013/06/10/received PY - 2014/03/31/accepted PY - 2014/7/24/entrez PY - 2014/7/24/pubmed PY - 2014/9/27/medline KW - Basaloid follicular hamartoma KW - Happle-Tinschert syndrome KW - Hemimegalencephaly KW - Polymicrogyria SP - 534 EP - 7 JF - Korean journal of radiology JO - Korean J Radiol VL - 15 IS - 4 N2 - Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria. SN - 2005-8330 UR - https://www.unboundmedicine.com/medline/citation/25053915/Happle_Tinschert_syndrome:_report_of_a_case_with_hemimegalencephaly_ L2 - https://www.kjronline.org/DOIx.php?id=10.3348/kjr.2014.15.4.534 DB - PRIME DP - Unbound Medicine ER -