Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder discovered by J. Bruce Beckwith in the United States in 1963 and H.R. Wiedemann in Germany in 1964 [1,2]. BWS has a spectrum of clinical symptoms and signs that can vary from mild to severe. Because mild cases tend to go unnoticed by patients’ caregivers and medical staff, the incidence of BWS is underestimated. However, it is currently believed to occur every 0.07 per 1,000 births [3,4]. BWS is a genetically heterogeneous disorder that is not fully understood. In 75%–80% of cases, chromosomal changes in the imprinted 11p15.5 region have been identified, with approximately 15% of cases being familial, while 85% are sporadic [5]. Autosomal dominant transmission of BWS has been reported, including uniparental paternal disomy of chromosome 11p15.5, and altered expression of the imprinted gene insulinlike growth factor 2 (IGF2) from the normally repressed maternal allele [6].

The clinical symptoms of BWS include neonatal hypoglycemia, macroglossia, visceromegaly, hemihypertrophy, omphalocele, and inguinal hernia. In the head and neck, BWS can manifest as a distinctive ear shape and a high risk for childhood neoplasms. Macroglossia refers to a large tongue that protrudes beyond the teeth or alveolar ridge while in a resting position. It can lead to airway and feeding difficulties, problems with speech, persistent drooling, and cosmetic concerns. In addition, macroglossia can cause malocclusion due to the abnormal position of the tongue, misalignment of the dental arch, and jaw malformation. Malocclusion can make speech difficult and cause the mouth to hang open. For these reasons, tongue-reduction surgery is indicated for BWS patients with symptomatic macroglossia.

Various surgical techniques for tongue reduction have been utilized. In patients with mild macroglossia, conservative therapy is recommended, which includes orofacial regulation therapy using oral stimulation plates and speech therapy [7]. Various tongue reduction techniques have been conducted in craniofacial centers, each with distinct incision patterns and methods, including keyhole, stellate, anterior wedge, and modified W-shaped patterns. For example, Ainuz et al. [8] reported that patients who underwent surgery using the anterior “W” tongue reduction technique had low rates of perioperative complications and showed significant improvements in oral competence.

In this study, we performed a retrospective review of midline elliptical excision and anterior wedge resection performed in BWS patients with macroglossia to evaluate surgical outcomes and complications. We also evaluated whether the malocclusion and mandibular prognathism caused by macroglossia could be surgically improved.

Among 68 patients diagnosed with BWS from June 2000 to February 2022, 15 patients underwent tongue-reduction surgery. Of these, three patients underwent surgery at other hospitals, and one patient received surgery at a different department; these patients were excluded due to insufficient medical data. Finally, 11 patients treated between December 2017 and February 2022 were analyzed.

There were four male and seven female patients with a median age of 35.09 months (range, 12–96 months). The average followup duration was 7.44±11.64 months. All patients had significant tongue protrusion with dentoskeletal problems, and three patients (27.3%) had persistent drooling. One patient (9.1%) had difficulty eating and swallowing. No patients had airway problems, lingual nerve disfunction, or failure to thrive (Table 1). The mean surgical time was 98±31.45 minutes, and the mean duration of the postoperative ICU stay was 3.81±2.4 days.

Hypoglossal palsy and tongue atrophy were not observed in any patients after surgery. Decreased taste could not be evaluated because the patients were too young, but parental feedback indicated no signs that taste was decreased. A postoperative subjective analysis by the main surgeon revealed that all patients had better tongue positioning in the oral cavity (Fig. 3).

Two patients (18.2%) had postoperative wound dehiscence, which was managed and resolved with conservative treatment. One patient with wound dehiscence underwent revision surgery (Table 2). Four patients (36.4%) started their diet on postoperative day 1 via a Levine tube. The mean oral diet initiation day was 6.0±2.0 days, except for one patient who was kept on a gastrostomy tube due to brain dysfunction. Among five patients who underwent postoperative speech evaluations, all patients showed normal speech development except one patient who had brain dysfunction and delayed development.

The postoperative cephalometric analysis showed that the SNB angle significantly decreased (preoperative 80.86° vs. postoperative 76.27°, P<0.001) and the ANB angle significantly increased (preoperative 5.6° vs. postoperative 8.71°, P<0.011) (Fig. 4). However, there were no significant differences in the SNA angle, SNPg angle, SN/GoGn angle, or GoGn/ANS-PNS angle.

Our results show that in BWS patients, performing tongue-reduction surgery effectively ameliorates problems that arise due to enlargement of the tongue. Tongue-reduction surgery in young patients also improves cosmetic outcomes. In addition, our cephalometric analysis showed improvements in objective positioning of the mandible. Although minor complications such as wound dehiscence can occur, there were no critical complications, such as lingual and hypoglossal neuropathy.

BWS is a disease with a wide variety of signs and symptoms. For this reason, it requires a multi-dimensional team of experts. Mild BWS presents as macroglossia that can be managed with conservative treatment, but surgical intervention is required in patients with symptoms related to BWS.

The indications for tongue reduction in BWS patients are multiple. An early operation is necessary in selected patients, such as patients who have difficulties in breathing or feeding, which can lead to failure to thrive. It may also be indicated if the size of the tongue causes drooling, speech or articulation disorders, abnormal cosmetic appearance with tongue protrusion and an impression of cognitive delay. A large tongue can also cause unfavorable mandibular growth. There is no absolute contraindication of tongue-reduction surgery [10,11].

In this study, all BWS patients presented with macroglossia accompanied by tongue protrusion. Feeding problems, including difficulty swallowing, were observed in one patient, and drooling was observed in two patients. In the remaining eight patients, there were no physical complications; however, surgery was performed to solve cosmetic concerns and malocclusion due to tongue protrusion.

Postoperatively, two patients suffered from wound dehiscence, and one required revision surgery. Within 4 days, these two patients began an oral diet immediately without the use of a nasogastric feeding tube. The remaining eight patients, except one patient who had a gastrostomy tube, started feeding using a nasogastric tube, and an oral diet began after 5–6 days. To address immediate postoperative complications such as irritability due to postoperative pain and wound dehiscence, all patients stayed in the ICU under deep sedation for the first few days.

No acute airway obstruction due to macroglossia was observed in our patient population; therefore, perioperative tracheostomy was not performed in any case. However, in several previous studies on macroglossia, the patients had compromised airways at birth, at rest in relation to positioning, or during feeding. In addition, one study reported cases of severe airway obstruction that required preoperative tracheostomy [12].

Previous studies have reported that the visual appearance of speech improved following tongue-reduction surgery, as the tongue was no longer visible during articulation. In addition, functional oral motor skills improved, and distinct articulatory errors were eliminated. This finding suggests that good speech results can be obtained following tongue-reduction surgery. In another study, most of the children had normal speech patterns at their post-surgical follow-up visits [13]. In our study, five patients with preoperative and postoperative speech evaluations showed normal speech development after surgery, except for one patient with developmental delay.

The best age for surgery to prevent or correct prognathism due to macroglossia remains a matter of debate. According to a retrospective review on surgical tongue reduction in BWS patients conducted by Alonso-Rodriguez et al. [14] between 2000 and 2015, tongue regrowth can cause the recurrence of prognathism when surgery is performed too young, which can lead to revision surgery; this may be due to relatively high levels of IGF2. The authors concluded that surgery should be delayed until a minimum age of 6 months. In our study, although there were no significant differences in speech outcomes according to the patients’ age at the time of surgery, mandibular prognathism showed greater improvements in younger patients. However, because our sample size is small, the longest cephalometric follow-up period was 1 year, and we could not check the longitudinal follow-up of each patient, this finding may not be generalizable to other patients with BWS. In addition, we believe that an osteotomy is not necessary for the correction of prognathism in younger patients. However, in a previous paper by Kole [15], tongue-reduction surgery combined with mandibular osteotomy was performed in children 7 to 12 years of age for the management of mandibular prognathism. According to a paper by Meazzini et al. [16], the mandibular growth rate did not decrease in the long term in operated BWS patients compared to non-operated BWS patients. Their data indicated that despite early glossectomy, the mandible continued to grow in height and in length, with a similar growth curve in both operated and non-operated BWS patients [16]. However, their findings were also limited by a small sample size, and other papers demonstrated that tongue reduction, when done prior to 2 years of age, was efficacious at preventing the development and/or worsening of dentoskeletal malocclusion. Therefore, further longitudinal evaluations are needed to elucidate this point, as will be reflected in future research. We believe that before skeletal bony growth is completed and the correction of mandibular prognathism becomes difficult due to the loss of flexibility, tongue-reduction surgery alone can effectively correct prognathism.

Surgical approaches for managing macroglossia were first reported in the 17th century [17]. Since then, several techniques that can reduce tongue size have been utilized, including anterior wedge reduction, tip amputation, central reduction, marginal resection, and dorsal flap excision. Combinations of these can be tailored to specific patients. In this study, we chose midline elliptical excision and anterior wedge resection, also known as the keyhole technique, to correct the aforementioned shape and dysfunctionality of the enlarged tongue. There is no consensus on the surgical extent of tongue reduction, but there are some important considerations that we should pay attention to during surgery to correct the tongue to an ideal size. To avoid aggravating the hypoglossal nerve bundle and artery located in the ventral inferolateral region of the tongue, the midline of the dorsal tongue was elliptically cut, and damage to the glossopharyngeal nerve was minimized by wedge resection of the anterior circumvallate papillae. With these considerations, the operator should carefully correct the tongue size to achieve a normal volume and shape [18].

The keyhole technique can more effectively reduce the tongue size in all dimensions, including the length, thickness, and width, than other techniques, and it has been reported that speech function improves after surgery because this technique rarely affects the mobility of the tongue [10]. In addition to the keyhole technique, there are several different techniques of tongue-reduction surgery, each with its own advantages and complications. Marginal resection can reduce the tongue’s width and length, but it is difficult to reduce the thickness using this method. It can cause the tongue to become ankylosed and globular with limited mobility, potentially leading to speech alteration, paresthesia, and taste alteration [19]. Anterior wedge reduction and tongue tip amputation can reduce the tongue length, but have a poor impact on the width. The perception of taste can be altered after surgery, and this technique can lead to a shortened and ankylosed tongue with limited protraction [15,20]. Central reduction can reduce the thickness of the tongue. The central reduction technique consists of an ellipsoid excision technique and a W-shaped posterior excision technique. These different techniques have yielded good results with minimal complications, but may be insufficient for true macroglossia [21,22]. However, macroglossia varies from patient to patient, making it necessary to tailor surgery according to each patient’s unique circumstances.

The patients in this study were too young to evaluate postoperative taste sensation. However, the parents of the patients reported that although the anterior part of the tongue (which senses sweetness) was mostly removed during the operation, the patients’ ability to taste sweetness was not affected. A previous study reported that although no patients completely lost taste sensation, their ability to detect salty and bitter tastes declined after surgery [23]. However, research on postoperative taste function in BWS patients is lacking, and further studies are needed. Despite the positive outcomes of tongue-reduction surgery, it should be kept in mind that individually tailored surgery is necessary to reflect each patient’s tongue size.

In conclusion, symptomatic macroglossia requiring surgical tongue reduction is relatively rare; therefore, tongue-reduction surgery is not commonly performed in patients with BWS. When indicated, tongue-reduction surgery must be tailored to the unique needs of BWS patients, and the keyhole technique can successfully narrow and shorten the tongue. In our study, we showed that tongue-reduction surgery is a simple, effective, and safe technique for treating severe macroglossia while preserving the functional part of the tongue in BWS patients. In addition, an advantage of the keyhole technique is that it does not completely remove the tip of the tongue, and therefore it does not affect the sensation and positioning required for normal speech. Above all, we found that tongue-reduction surgery is an effective method to improve mandibular prognathism caused by macroglossia in young BWS patients.