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Article: Schwartz-Jampel syndrome: a review of the literature and case report

TitleSchwartz-Jampel syndrome: a review of the literature and case report
Authors
KeywordsDentin Defects
Hypodontia
Schwartz-Jampel Syndrome
Issue Date2012
PublisherSpecial Care Dentistry.
Citation
Special Care In Dentistry, 2012, v. 32 n. 3, p. 105-111 How to Cite?
AbstractSchwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia. © 2012 Special Care Dentistry Association and Wiley Periodicals, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/154728
ISSN
2015 SCImago Journal Rankings: 0.344
References

 

DC FieldValueLanguage
dc.contributor.authorMallineni, SKen_HK
dc.contributor.authorYiu, CKYen_HK
dc.contributor.authorKing, NMen_HK
dc.date.accessioned2012-08-08T08:27:09Z-
dc.date.available2012-08-08T08:27:09Z-
dc.date.issued2012en_HK
dc.identifier.citationSpecial Care In Dentistry, 2012, v. 32 n. 3, p. 105-111en_HK
dc.identifier.issn0275-1879en_HK
dc.identifier.urihttp://hdl.handle.net/10722/154728-
dc.description.abstractSchwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia. © 2012 Special Care Dentistry Association and Wiley Periodicals, Inc.en_HK
dc.languageengen_US
dc.publisherSpecial Care Dentistry.-
dc.relation.ispartofSpecial Care in Dentistryen_HK
dc.subjectDentin Defectsen_US
dc.subjectHypodontiaen_US
dc.subjectSchwartz-Jampel Syndromeen_US
dc.subject.meshAnodontia - etiologyen_HK
dc.subject.meshChild, Preschoolen_HK
dc.subject.meshDental Care for Chronically Illen_HK
dc.subject.meshDental Enamel - abnormalitiesen_HK
dc.subject.meshDentin - abnormalitiesen_HK
dc.subject.meshFollow-Up Studiesen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshOsteochondrodysplasias - congenitalen_HK
dc.subject.meshTooth Abnormalities - etiologyen_HK
dc.subject.meshTooth Attrition - etiologyen_HK
dc.subject.meshTooth Crown - abnormalitiesen_HK
dc.subject.meshTooth, Deciduous - abnormalitiesen_HK
dc.titleSchwartz-Jampel syndrome: a review of the literature and case reporten_HK
dc.typeArticleen_HK
dc.identifier.emailYiu, CKY: ckyyiu@hkucc.hku.hken_HK
dc.identifier.emailKing, NM: hhdbknm@hkucc.hku.hken_HK
dc.identifier.authorityYiu, CKY=rp00018en_HK
dc.identifier.authorityKing, NM=rp00006en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.1754-4505.2012.00249.xen_HK
dc.identifier.pmid22591433en_HK
dc.identifier.scopuseid_2-s2.0-84861356943en_HK
dc.identifier.hkuros208327-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84861356943&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume32en_HK
dc.identifier.issue3en_HK
dc.identifier.spage105en_HK
dc.identifier.epage111en_HK
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMallineni, SK=42461949900en_HK
dc.identifier.scopusauthoridYiu, CKY=7007115156en_HK
dc.identifier.scopusauthoridKing, NM=7201762850en_HK

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