Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes |
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Authors: | DL Domingo MI Trujillo SE Council MA Merideth LB Gordon T Wu WJ Introne WA Gahl TC Hart |
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Affiliation: | National Institute of Dental and Craniofacial Research, Bethesda, MD, USA;;National Human Genome Research Institute, Bethesda, MD, USA;;Intramural Office of Rare Diseases, Office of the Director, National Institutes of Health, Bethesda, MD, USA;;Warren Alpert Medical School of Brown University, Providence, RI, USA |
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Abstract: | 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. |
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Keywords: | progeria craniofacial dentition oral phenotype |
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