Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians

Patrizia Defabianis, Alessandro Mussa, Rossella Ninivaggi, Diana Carli and Federica Romano
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Patrizia Defabianis: Department of Surgical Sciences, C.I.R. Dental School, University of Turin, 10126 Turin, Italy
Alessandro Mussa: Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy
Rossella Ninivaggi: Department of Surgical Sciences, C.I.R. Dental School, University of Turin, 10126 Turin, Italy
Diana Carli: Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy
Federica Romano: Department of Surgical Sciences, C.I.R. Dental School, University of Turin, 10126 Turin, Italy

IJERPH, 2022, vol. 19, issue 4, 1-11

Abstract: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype–phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the molecular subtypes still are scanty. The aim of this cross-sectional study was to associate maxillo-facial morphology and growth pattern with genoype in 25 Caucasian children with BWS and macroglossia. Twelve patients experienced a loss of metilation at imprinting center 2 (IC2-LoM), five had mosaic paternal uniparental isodisomy of chromosome 11 (UPD(11)pat), and eight were negative. A more marked tongue enlargement was detected in patients with IC2-LoM and negative genotype, while UPD(11)pat children showed mild macroglossia ( p = 0.048). A cluster analysis did not demonstrate any specific relationship between (epi)genotype and maxillo-facial phenotype, but separated BWS patients based on their cephalometric characteristics. Children with IC2-LoM or negative genotype displayed hyperdivergence values > 30°, clockwise growth tendency, and skeletal class II into the same cluster. They had a negative prognostic score. These preliminary data suggest the need for developing individualized protocols for early monitoring of the craniofacial growth in such patients.

Keywords: Beckwith-Wiedemann syndrome; Caucasian; ethnicity; imprinting disturbance; macroglossia; malocclusion; molecular testing; tongue reduction (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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