Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly.
10.3348/kjr.2014.15.4.534
- Author:
Anil OZGUR
1
;
Gonca CABUK
;
Rabia ARPACI
;
Kiymet BAZ
;
Demet KATAR
Author Information
1. Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, Turkey. anilozgur@yahoo.com
- Publication Type:Case Reports
- Keywords:
Basaloid follicular hamartoma;
Happle-Tinschert syndrome;
Hemimegalencephaly;
Polymicrogyria
- MeSH:
Basal Cell Nevus Syndrome/diagnosis;
Child;
Dental Enamel/abnormalities;
*Frontal Lobe/pathology;
Hamartoma/*diagnosis/pathology;
Humans;
Leg Length Inequality/*diagnosis;
Magnetic Resonance Imaging;
Male;
Malformations of Cortical Development/*diagnosis;
Skin Diseases/*diagnosis/pathology;
Syndrome
- From:Korean Journal of Radiology
2014;15(4):534-537
- CountryRepublic of Korea
- Language:English
-
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.
