Morquio’s syndrome: Clinical and radiological aspectsMustafa Aydın1, Hakan Artaş2, Sabahattin Ertuğrul3, Hüseyin Yılmaz11Firat University Faculty of Medicine, Department of Child Health and Medicine, Elazig
2Firat University Faculty of Medicine, Department of Radiology, Elazig
3Yüksekova State Hospital, Child Health and Diseases Specialist, Hakkari
Morquio’s syndrome is an inherited disorder caused by the lack of the enzyme responsible for breakdown of keratan sulfate. The resulting buildup of keratan sulfate in tissues leads
to skeletal dysplasia with other organ systems involvement. A four years old girl brought with the complaints of deformity in legs, abnormal gait, changed shape of chest cage, and short trunk dwarfism was presented to emphasize the clinical and radiological features of the Morquio’s syndrome. Morquio’s syndrome should be also considered in the differential diagnosis of the patients with short trunk dwarfism and skeletal deformities. Keywords: Morquio’s syndrome, keratan sulfate, short trunk dwarfism, radiological finding
Morquio sendromu: Klinik ve radyolojik yönden değerlendirmeMustafa Aydın1, Hakan Artaş2, Sabahattin Ertuğrul3, Hüseyin Yılmaz11Fırat Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Elazığ
2Fırat Üniversitesi Tıp Fakültesi, Radyodiagnostik Anabilim Dalı, Elazığ
3Yüksekova Devlet Hastanesi, Çocuk Sağlığı ve Hastalıkları Uzmanı, Hakkari
Anahtar Kelimeler: Morquio sendromu, keratan sülfat, boy kısalığı, radyolojik bulgular
Mustafa Aydın, Hakan Artaş, Sabahattin Ertuğrul, Hüseyin Yılmaz. Morquio’s syndrome: Clinical and radiological aspects. Medeniyet Med J. 2006; 21(3): 149-152
Corresponding Author: Mustafa Aydın, Türkiye |
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