Published online Mar 16, 2014. doi: 10.12998/wjcc.v2.i3.67
Revised: December 27, 2013
Accepted: February 18, 2014
Published online: March 16, 2014
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.
Core tip: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic syndrome characterized by the accelerated appearance of aging in children. We report a case of an 11-year-old boy with HGPS with uncommon HGPS-associated dentomaxillofacial features. Alterations in the facial sinuses and hypoplasia of the condyles were recognized in our patient, expanding the phenotypic spectrum of this syndrome.