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. 2009 Apr;15(3):187-95.
doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

D L Domingo  1 , M I Trujillo, S E Council, M A Merideth, L B Gordon, T Wu, W J Introne, W A Gahl, T C Hart
Affiliations

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

D L Domingo et al. Oral Dis. 2009 Apr.

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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Figures

Figure 1
Figure 1
10-year old Caucasian male (a) and 5–year old Caucasian female (b) with typical HGPS facial features (i.e., loss of subcutaneous fat, beaked nose, missing eye lashes and eyebrows, alopecia with easy mapping of the scalp veins, absence of earlobes and micrognathia).
Figure 2
Figure 2
Eight-year old Caucasian male with HGPS demonstrating a hypoplastic mandible with a steep mandibular angle, delayed dental eruption, delayed root resorption of deciduous anteriors, congenitally missing mandibular permanent 2nd premolars, dysmorphic maxillary permanent molars, and bulbous mandibular molar crowns.
Figure 3
Figure 3
Seventeen-year old Hispanic HGPS male demonstrating dysmorphic maxillary molars with pronounced distal tilting of the 2nd molars (a, b).
Figure 4
Figure 4. Clinical oral findings in HGPS
a. Ten-year old HGPS male exhibiting “double rows” of maxillary teeth. b, c. HGPS patients manifesting an ogival palatal vault and a midline sagittal palatal fissure. d. Ankyloglossia in an 8-year old HGPS male.
Figure 5
Figure 5
Cephalometric measurements on 12–year old Hispanic HGPS female.
See this image and copyright information in PMC

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