Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
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.


CONCLUSIONS
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.
Domingo
D L
DL
Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA. ddomingo@mail.nih.gov
Trujillo
M I
MI
Council
S E
SE
Merideth
M A
MA
Gordon
L B
LB
Wu
T
T
Introne
W J
WJ
Gahl
W A
WA
Hart
T C
TC
D000015:Abnormalities, Multiple / Q000473:pathology; D000293:Adolescent; D000366:Age Determination by Teeth; D000539:Alveolar Process / Q000473:pathology; D000848:Anodontia / Q000150:complications* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008310:Malocclusion / Q000150:complications / Q000473:pathology; D019767:Maxillofacial Abnormalities / Q000150:complications* / Q000473:pathology; D009059:Mouth Diseases / Q000150:complications / Q000473:pathology; D010641:Phenotype; D011371:Progeria / Q000150:complications* / Q000473:pathology; D011446:Prospective Studies; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications* / Q000473:pathology