Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

• Published in: Oral diseases 2009-04, Vol.15 (3), p.187-195
• Main Authors: Domingo, DL, Trujillo, MI, Council, SE, Merideth, MA, Gordon, LB, Wu, T, Introne, WJ, Gahl, WA, Hart, TC
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - pathology; Adolescent; Age Determination by Teeth; Alveolar Process - pathology; Anodontia - complications; Anodontia - pathology; Child; Child, Preschool; craniofacial; Dentistry; dentition; Facies; Female; Humans; Infant; Male; Malocclusion - complications; Malocclusion - pathology; Maxillofacial Abnormalities - complications; Maxillofacial Abnormalities - pathology; Mouth Diseases - complications; Mouth Diseases - pathology; oral; Phenotype; progeria; Progeria - complications; Progeria - pathology; Prospective Studies; Syndrome; Tooth Abnormalities - complications; Tooth Abnormalities - pathology
• ISSN: 1354-523X; 1601-0825
• DOI: 10.1111/j.1601-0825.2009.01521.x

Objective:  Hutchinson‐Gilford progeria syndrome (HGPS) is a rare early‐onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include ‘bird‐like’ facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. Methods:  Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified. Results:  Radiographic findings included hypodontia (n = 7), dysmorphic teeth (n = 5), steep mandibular angles (n = 11), and thin basal bone (n = 11). Soft tissue findings included ogival palatal arch (n = 8), median sagittal palatal fissure (n = 7), and ankyloglossia (n = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) (P = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. Conclusion:  Novel oral‐craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS.