title: Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings.
abstract: Schwartz-Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz-Jampel syndrome. The case histories of two siblings diagnosed with this disorder are described as well as their dental care.
authors.affiliation: Department of Pediatric Clinics, Preventive and Social Dentistry, Faculty of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil. dkranya@forp.usp.br
authors.forename: Kranya Victoria
authors.initials: KV
authors.lastname: Díaz-Serrano
authors.forename: Cristina Bueno
authors.initials: CB
authors.lastname: Brandão
authors.forename: Renata Bueno
authors.initials: RB
authors.lastname: Brandão
authors.forename: Plauto Christopher Aranha
authors.initials: PC
authors.lastname: Watanabe
authors.forename: Simone Cecílio Hallak
authors.initials: SC
authors.lastname: Regalo
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000150:complications* / Q000000981:diagnostic imaging; D003286:Contracture / Q000150:complications*; D003724:Dental Arch; D017742:Dental Care for Chronically Ill; D005260:Female; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000150:complications / Q000000981:diagnostic imaging; D019767:Maxillofacial Abnormalities / Q000150:complications*; D008844:Micrognathism / Q000150:complications* / Q000000981:diagnostic imaging; D009222:Myotonia / Q000150:complications; D009909:Oral Health; D010009:Osteochondrodysplasias / Q000150:complications*; D011859:Radiography; D035781:Siblings