Long-term longitudinal evalutation of mandibular growth in patients with Beckwith-Wiedemann Syndrome treated and not treated with glossectomy

Meazzini, Maria Costanza; Besana, Melissa; Tortora, Chiara; Cohen, N.; Rezzonico, A; Ferrari, M; Autelitano, Luca

doi:10.1016/j.jcms.2020.09.004

Cited by 12 publications

(16 citation statements)

References 24 publications

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“…This finding is relevant as it questions the need of TRS for orthodontic reasons. Consistently, other authors expressed concerns regarding the real benefit of early surgical treatment in preventing mandibular prognathism and open bite [ 19 , 38 ]. Naujokat et al reported a similar occurrence of dentoalveolar and musculoskeletal malformations in BWS, irrespective of TRS.…”

Section: Discussionmentioning

confidence: 83%

“…Malpositioned teeth and anterior open bites were observed in 62% and 58% of surgically treated children, respectively, versus 80% and 70% of those not treated by TRS [ 38 ]. Meazzini et al did not find any positive influence of early TRS on mandibular growth pattern [ 19 ]. It should also be considered that the size of macroglossia decreases as the child grows up [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

“…Indications for tongue reduction surgery (TRS) have not been clearly defined. While some studies recommend early surgical treatment of macroglossia to prevent mandibular prognathism and open bite, others demonstrated that TRS does not control the pattern of mandibular growth and the development of class III skeletal malocclusion [ 16 , 17 , 18 , 19 ]. Indeed, the enlarged mandibular body observed in BWS might be caused by mandibular cartilaginous growth activated by IGF-2 expression, rather than being secondary to tongue overgrowth [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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

Defabianis

Mussa

Ninivaggi

et al. 2022

IJERPH

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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.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Defabianis

Mussa

Ninivaggi

et al. 2022

IJERPH

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“…Oral function and psychosocial impact were the most affected OHIP-14 health domains among BWS patients. As a consequence of macroglossia, BWS patients often develop orofacial growth disturbances and experience impaired oral functions, such as difficulties in feeding, chewing and sound articulation [ 8 , 9 , 10 ]. Moreover, tongue enlargement could also have aesthetic implications because open mouth, together with tongue protrusion and drooling, may be perceived as an intellectual disability.…”

Section: Discussionmentioning

confidence: 99%

“…According to Vogel et al [ 7 ] its main signs and symptoms are dry and cracked tongue; difficulty chewing, swallowing and articulating sound; airway obstruction; and noisy breathing. As a consequence of the increased pressure of the tongue against and between the teeth, dentoskeletal disharmonies may develop, including mandibular prognathism, skeletal class III malocclusion, widened interdental spaces, anterior open bite and long facial height [ 8 , 9 , 10 ]. The clinical aspect, together with drooling and speech difficulties, could give the perception of mental retardation [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Oral Health-Related Quality of Life among Children and Adolescents with Beckwith–Wiedemann Syndrome in Northern Italy

Defabianis

Ninivaggi

Romano

2022

JCM

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Due to associated maxillofacial growth anomalies and the impairment of oral functions, macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of people with Beckwith–Wiedemann syndrome (BWS). Therefore, the aim of this cross-sectional study was to determine the OHRQoL of Italian children and adolescents with BWS compared to healthy peers and to identify which symptoms related to macroglossia had the highest impact. A total of 48 patients with BWS and 48 age- and gender-matched controls completed the Italian version of OHIP-14 and a questionnaire on functional, oral and aesthetic outcomes. Parents of patients with BWS who had undergone tongue reduction surgery (TRS) answered additional questions related to surgery. The BWS group scored higher than controls on the total OHIP-14 and on the dimensions of oral function (p: 0.036) and psychosocial impact (p: 0.002), indicating a reduced OHRQoL. Neither gender nor age had an impact on OHRQoL. Scores were worse in children and adolescents treated with TRS, as most of them still had open bite malocclusion and speech difficulties. The OHRQoL of children and adolescents affected by BWS is worse than that of their healthy peers in spite of the surgical treatment of macroglossia.

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Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

2023

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Objectives The role of tongue reduction surgery (TRS) in preventing excessive mandibular growth and anterior open bite in children with Beckwith–Wiedemann Spectrum (BWSp) is still controversial. This cross-sectional study aimed at comparing craniofacial growth pattern in children affected by BWSp either treated or not treated with early TRS for severe macroglossia. Considering the invasive nature of such surgery, the present study could help in clarifying the need for TRS to reduce or prevent growth disturbances. Materials and methods Orthopantomography and lateral skull x-ray images were taken either from surgically treated or non-surgically treated patients, aged 5 to 8 years, to compare dentoskeletal features and craniofacial growth by cephalometric analysis. Molecular testing results were collected from their medical records. Results Eighteen BWSp patients were consecutively recruited: 8 underwent TRS at 14.9 ± 2.2 months of age, while 10 did not. Anterior open bite and dental class III were more frequently observed in the surgically treated group, but none showed skeletal class III. No statistically significant differences were observed in growth pattern, but children treated with TRS showed a tendency towards both maxillary and mandibular prognathism with protruding lower lip. Growth pattern seemed to be not related to molecular subtypes. Conclusions These preliminary data suggest that early TSR does not improve craniofacial growth pattern and dentoskeletal features in BWSp children. Clinical relevance Reductive glossectomy may not be justified for preventing or avoiding oro-facial deformities in BWSp; therefore, early monitoring of maxillofacial development of each affected child has a great clinical significance.

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Long-term longitudinal evalutation of mandibular growth in patients with Beckwith-Wiedemann Syndrome treated and not treated with glossectomy

Cited by 12 publications

References 24 publications

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

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

Oral Health-Related Quality of Life among Children and Adolescents with Beckwith–Wiedemann Syndrome in Northern Italy

Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

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