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A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome
Dominic J Romeo1, Manisha Banala1, Meagan Wu1
1Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Objective:
We propose the first classification scheme for macroglossia in patients with Beckwith-Wiedemann syndrome (BWS), the BWS Index of macroglossia (BIG).
Background:
A clinically relevant anatomic scoring system to better characterize macroglossia severity could improve care in BWS.
Methods:
Patients with molecularly confirmed BWS seen were included. Relationships among BIG scores, tongue reduction surgery, clinical score, percent mosaicism, and polysomnography were examined.
Results:
Patients were classified from BIG0 to BIG3. BIG0 included those without macroglossia; BIG1 included those with macroglossia not protruding beyond the teeth/alveolus; BIG2 included those with tongue protrusion beyond the teeth/alveolus to the lips but can be contained within the mouth; and BIG3 includes those with tongues that protrude beyond the teeth/alveolus and lips but cannot be closed within the mouth.Of the 459 patients with molecularly confirmed BWS, 266 (58.0%) patients were scored. One hundred eleven (41.7%) were BIG0, 44 (16.5%) were BIG1, 90 (33.8%) were BIG2, and 21 (7.9%) were BIG3. As scores increased, patients more frequently underwent tongue reduction surgery (BIG0: 0% vs. BIG1: 20.5% vs. BIG2: 51.1% vs. BIG3: 100%; r =0.66, P <0.01). Higher BIG scores were associated with elevated BWS clinical scores ( r =0.68, P <0.01) and increased tissue mosaicism ( r =0.50, P <0.01) as well as trends towards worse obstructive apnea-hypopnea indices ( r =0.29, P =0.02) and lower SpO 2 nadirs ( r =-0.29, P =0.02).
Conclusions:
In this large series of patients with Beckwith-Wiedemann syndrome, increased BIG score correlated with undergoing tongue reduction surgery and increased phenotypic severity. Adoption of this scoring system may facilitate communication and risk stratification across institutions.
