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Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

Year: 2014

Type: article

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.

Source: Korean Journal of Radiology

DOI: 10.3348/kjr.2014.15.4.534

Authors: Anıl Özgur, Gonca Çabuk, Rabia Arpacı, Kıymet Baz, Demet Katar

Institution: Mersin Üniversitesi

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W2057747652