Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report

作     者：Daniel Berretta Alves Juliana Melo Silva Tatiany Oliveira Menezes Rosely Santos Cavaleiro Fabrício Mesquita Tuji Marcio Ajudarte Lopes Alexandre Augusto Zaia Ricardo Della Coletta 

作者机构：Department of Radiology Esperanca Institute of Higher Learning Santarém-Pará 68040-100 Brazil Department of Endodontics Federal University of Pará Belém-Pará 66055-240 Brazil Department of Dentistry for Patients with Special Needs Federal University of Pará Belém-Pará 66055-240 Brazil Department of Oral and Maxillofacial Pathology Federal University of Pará Belém-Pará 66055-240 Brazil Department of Oral Diagnosis School of Dentistry State University of Campinas Piracicaba-Sao Paulo 13083-970 Brazil Department of Restorative DentistrySchool of Dentistry State University of Campinas Piracicaba-Sao Paulo 13083-970 Brazil 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2014年第2卷第3期

页      面：67-71页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by The State University of Campinas Piracicaba-Sao Paulo 

主　　题：Cone beam computed tomography LMNA mutation Craniofacial anomalies Temporomandibular joint 

摘      要：Hutchinson-Gilford progeria syndrome(HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C(LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation(C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.