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Morphometric Measurements of Intraoral Anatomy in Children with Beckwith-Wiedemann Syndrome: A Prospective Study and Novel Approach
Dominic Romeo
*1, Andrew George
2, Jonathan Sussman
1, Manisha Banala
1, Andrew Wiemken
3, Meagan Wu
1, Jinggang Ng
1, Jesse A. Taylor
1, Richard J. Schwab
3, Christopher M. Cielo
4, Jennifer M. Kalish
21Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Phiadelphia, Philadelphia, PA; 2Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; 3Division of Sleep Medicine, University of Pennsylvania, Philadelphia, PA; 4Division of Pulmonary & Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, PA
Background:An easy-to-use tool to objectively measure intraoral anatomy with meaningful clinical correlations may improve care for patients with Beckwith-Wiedemann syndrome (BWS), who commonly have symptomatic macroglossia.
Methods:Children aged 2-17 years with BWS were prospectively enrolled between 12/2021-01/2024. Digital intraoral photographs with a laser ruler were taken, and morphometric measurements were made using ImageJ software. Relationships between morphometrics and outcomes including BWS clinical score, percentage mosaicism, and incidence of tongue reduction surgery were examined using t-tests and multivariate linear models.
Results:Pharyngeal morphometric measurements were obtained in 49 patients with BWS. Mouth area, width, and height differed across BWS molecular subtypes (p<0.05). Right-to-left tongue width (p=0.022) and mouth width (p=0.049) were larger in those with loss of methylation at imprinting control region 2 (IC2 LOM) than other BWS variants. Patients with paternal uniparental isodisomy of chromosome 11p15 (pUPD11) had narrower mouths than others (p=0.040). Those with tongue reduction surgery had more tongue ridging than those without surgery (p<0.01). There were correlations between mouth area and BWS clinical score (p=0.046), tongue width and BWS clinical score (p=0.040), and tongue length and percentage mosaicism (p=0.012).
Conclusion:Intraoral morphometric measurements are associated with phenotypic burden in BWS. Tongue morphology varies across the BWS spectrum, with IC2 LOM having wider tongues and mouths, and pUPD11 having narrower mouths. Tongue ridging is more common in those selected for surgery. Intraoral morphometric measurements may be safely obtained at low costs across centers caring for children with BWS or others at risk of upper airway obstruction.
Figure 1. Example photographs depicting morphometric measurements with A. showing OMNP measurements of tongue width, mouth width, mouth height, and mouth area; B. showing TEMA measurements of the tongue width, tongue length, tongue area, and mouth width; and C. showing TEML measurement of tongue length, tongue thickness, tongue curvature, and tongue area.
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