Happle-Tinschert syndrome: report of a case with hemimegalencephaly

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 repo...

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Veröffentlicht in:	Korean journal of radiology 2014, 15(4), , pp.534-537
Hauptverfasser:	Özgur, Anıl, Çabuk, Gonca, Arpacı, Rabia, Baz, Kıymet, Katar, Demet
Format:	Artikel
Sprache:	eng
Schlagworte:	Basal Cell Nevus Syndrome - diagnosis Cancer Child Congenital diseases Dental Enamel - abnormalities Dermatology Enamel Frontal Lobe - pathology Hamartoma - diagnosis Hamartoma - pathology Humans Intellectual disabilities Leg Length Inequality - diagnosis Magnetic Resonance Imaging Male Malformations of Cortical Development - diagnosis Medical imaging Neuroimaging Patients Pediatric Imaging Skin Diseases - diagnosis Skin Diseases - pathology Syndrome Teeth 방사선과학
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Beschreibung
Zusammenfassung:	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.
ISSN:	1229-6929 2005-8330
DOI:	10.3348/kjr.2014.15.4.534