title: Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.
abstract: 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.
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Daniel Berretta
authors.initials: DB
authors.lastname: Alves
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Juliana Melo
authors.initials: JM
authors.lastname: Silva
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Tatiany Oliveira
authors.initials: TO
authors.lastname: Menezes
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Rosely Santos
authors.initials: RS
authors.lastname: Cavaleiro
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Fabrício Mesquita
authors.initials: FM
authors.lastname: Tuji
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Marcio Ajudarte
authors.initials: MA
authors.lastname: Lopes
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Alexandre Augusto
authors.initials: AA
authors.lastname: Zaia
authors.affiliation: Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, Brazil.
authors.forename: Ricardo Della
authors.initials: RD
authors.lastname: Coletta
keywords: Cone beam computed tomography; Craniofacial anomalies; LMNA mutation; Temporomandibular joint