title: Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case.
abstract: Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects of this syndrome. Here we report one such case, which may provide valuable information to specialists in oral healthcare regarding the associated orofacial aspects.
authors.affiliation: Department of Oral Medicine and Radiology, Manipal College of Dental Sciences, Karnataka, India.
authors.forename: Aditya
authors.initials: A
authors.lastname: Patney
authors.forename: Keerthilatha M
authors.initials: KM
authors.lastname: Pai
authors.forename: Amar A
authors.initials: AA
authors.lastname: Sholapurkar
mesh_terms: D000293:Adolescent; D003409:Congenital Hypothyroidism / Q000150:complications; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000150:complications; D008046:Lip / Q000002:abnormalities; D008334:Mandible / Q000002:abnormalities; D019767:Maxillofacial Abnormalities / Q000209:etiology*; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications; D024343:Open Bite / Q000209:etiology; D021362:Palate, Hard / Q000002:abnormalities; D010375:Pedigree; D063173:Retrognathia / Q000209:etiology; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities