title: Hurler syndrome: orofacial, dental, and skeletal findings of a case.
abstract: Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome.
authors.affiliation: Department of Oral Medicine and Radiology, Faculty of Dentistry Jamia Millia Islamia, New Delhi, Delhi, 110025, India, arpitadoc@gmail.com.
authors.forename: Arpita Rai
authors.initials: AR
authors.lastname: Thakur
authors.forename: Venkatesh G
authors.initials: VG
authors.lastname: Naikmasur
authors.forename: Atul
authors.initials: A
authors.lastname: Sattur
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000000981:diagnostic imaging*; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging