Abstract
Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia. Macroglossia may contribute to anterior open bite malocclusion with prognathism, speech articulation disturbances, drooling and the perception of intellectual disability. It was the purpose of this study to review a series of BWS patients who underwent surgical reduction of the tongue by a modified technique with respect to aesthetic and functional outcomes. Seven BWS patients, age 6 months to 21 months, had a ‘stellate/anterior wedge’ reduction with an anterior rotation flap and were followed up from 4 months to 9 years postoperatively. Assessment of aesthetics together with tongue morphology and mobility were recorded and a postoperative speech evaluation was performed. Minor contour deformities were present in two patients during function but all parents were satisfied with the results. The speech pathology assessment results indicated positive outcomes for speech, oral structure and function, and feeding for all children assessed. This modified technique allows for an adequate reduction of tongue volume with conservation of motor and sensory function as well as preservation of anatomical contour.
Beckwith Wiedemann syndrome (BWS) was first described by Beckwith in 1963 and Wiedemann in 1964 and is a rare, congenital overgrowth disorder that is encountered by the craniomaxillofacial surgeon. The syndrome is characterized by macroglossia, anterior abdominal wall defects (omphalocele and umbilical hernia), visceromegaly, gigantism, and neonatal hypoglycaemia. Clinical features are variable and the diagnosis is made with a minimum of three major diagnostic findings ( Table 1 ). Historically, the triad of exomphalos, macroglossia and gigantism was described as ‘EMG syndrome’.
| Major features |
| Anterior abdominal wall defects (omphalocele, exomphalos, umbilical hernia, cryptorchidism, diastasis recti) |
| Macroglossia |
| Macrosomia, gigantism (pre and/or post-natal growth >90th percentile) |
| Additional features |
| Hypogylcaemia |
| Organomegaly/visceromegaly (nephromegaly, hepatomegaly, splenomegaly) |
| Hemihypertrophy |
| Adrenal cytomegaly |
| Renal abnormalities |
| Congenital heart defects |
| Head and neck manifestations |
| Cleft palate |
| Maxillary hypoplasia |
| Microcephaly |
| Prominent occiput |
| Flattened nasal dorsum |
| Downward slanted palpebral fissures |
| Ear abnormalities (anterior linear earlobe creases, posterior helical ear pits) |
| Facial flame nevus (forehead) |
BWS has a reported incidence of approximately 1 in 13,700 to 17,000 births with a prevalence of 0.07 per 1000 births. Males and females are affected with equal frequency. Genetically, most cases are sporadic, but an estimated 15% of BWS patients inherit the trait autosomal dominantly with incomplete penetrance. It has been linked to mutations of imprinted growth regulatory genes on chromosome 11p15.5. Affected individuals are at an elevated risk of developing embryonal neoplasms (Wilms’ tumour, hepatoblastoma, rhabdomyosarcoma, pancreatic tumours and adrenocortical tumours). Crucial to the investigation and surveillance of every BWS case are serial abdominal ultrasound examinations. Lifelong cancer surveillance is advocated by some centres.
Macroglossia, or increased tongue size relative to the oral cavity, has been described in 80–99% of BWS cases, and has been classified as a congenital (true) macroglossia secondary to muscular enlargement due to hyperplasia of muscle fibres. Histological examination of the excision specimens showed no hypertrophy of muscle fibres, nor fatty infiltration or significant fibrosis. Nerve and muscle tissue is typically normal. The clinical presentation of macroglossia may include respiratory compromise, drooling, dysphagia, and poor cosmesis as the tongue may protrude from the mouth and rest between the lips for most of the time ( Fig. 1 ). Macroglossia has been implicated in contributing to the development of malocclusion due to the resting pressure of the tongue against and between the teeth resulting in a dental class III, anterior open bite malocclusion with prognathism and proclination of the anterior teeth. The protrusion of the tongue in BWS patients may also lead to the public perception of mental retardation whereas these patients usually have normal mentation. Intellectual disability and delay have been described in only a minority of BWS patients. Families are naturally concerned that the appearance of a visually prominent, large tongue will invoke public prejudice with consequent psychological distress.
Speech articulation may also be affected. Tongue movements and sounds are often affected by the macroglossia of BWS. Articulation errors for example, commonly occur for bilabial sounds (e.g., /p/, /b/) that are often produced as linguolabials. When producing the bilabial sound /p/ for example, the lips should come together. When produced as a linguolabial, /p/ will be distorted as the tongue protrudes through to make contact with the lips, and inhibits the lips from coming together to achieve the necessary air constriction and release normally required for a /p/. Other lingual sounds commonly affected include alveolar plosives (e.g., /t/, /d/) and alveolar fricatives (/s/, /z/). Commonly alveolar sounds may be produced as linguadental sounds (e.g., the tongue tip protrudes through the teeth), or the tongue blade may make contact with the alveolar ridge instead of the tongue tip. Both of these scenarios use incorrect articulatory placement of the tongue, and will affect speech intelligibility.
Surgical treatment of the upper airway and macroglossia associated with BWS has included tonsillectomy, adenoidectomy, tracheostomy, lingual frenectomy, and surgical tongue reduction. Removal of hypertrophied tonsils and adenoidal tissue may improve cases of ‘pseudomacroglossia’ in which excess tissue in the pharynx is pushing the tongue forward. The indications for tongue reduction in true macroglossia are based on the degree to which the tongue protrudes and the potential for adverse affects on anterior tooth position, speech and mandibular growth.
There has been no general agreement as to optimal timing of tongue reduction in infants. Regrowth of tongue tissue and the need for secondary debulking procedures has been reported. Kopriva and Classen recommended that the optimal time for tongue reduction procedures is after 6 months of age, coinciding with a reduction in the rate of tongue growth.
The goal of a partial glossectomy in BWS patients is to reduce the tongue to as close to a normal size as possible with preservation of form and function. It has been suggested that the reduction procedure should result in a tongue that remains behind the lower dental arch at rest, yet can wet the lips on protrusion. Many designs of surgical tongue reduction have been advocated. These techniques can be grouped into anterior wedge excisions, tip amputations, horizontal filleting, dorsal flaps, central reductions, and combined anterior and central approaches. Keyhole resection has been cited as the most effective method to reduce the width and length of the tongue. Recently, in a review of 23 patients with BWS macroglossia, the anterior wedge resection technique was recommended. In all cases, except for one patient requiring further surgery, the desired position of the tongue sitting at rest posterior to the alveolus, was achieved.
The purpose of this study was to review the authors’ series of BWS patients who have undergone surgical reduction of the tongue by a modified technique. The advantages and disadvantages of other techniques are also discussed.
Materials and methods
Over a 10-year period (1998–2008), cases of macroglossia were identified where a tongue reduction had been performed. Surgical partial glossectomies were undertaken in 10 patients. Seven of these patients were diagnosed with BWS (2 males, 5 females) and underwent a ‘stellate/anterior wedge’ reduction with an anterior rotation flap ( Fig. 2 ). Patients were surgically treated from the age of 6 months to 21 months (mean age 16.7 months). Follow-up ranged from 4 months to 9 years postoperatively.
Follow-up was arranged to assess patient and parent satisfaction with tongue function and cosmesis and a clinical assessment of tongue morphology and mobility was performed. All patients underwent postoperative speech evaluation by the same speech therapist. Each patient’s oral motor, speech and language, and swallowing proficiencies were assessed and all sessions were video recorded. An additional, independent assessment was made by a second speech therapist. Children up to 2 years of age underwent the Schedule for Oral Motor Assessment (SOMA). Oral motor testing for children up to 4 years included an assessment of the child’s oral movements in context. Children aged 4 years and older underwent a head and neck cranial nerve assessment. Swallowing was evaluated through the Clinical Assessment for Paediatric Neurogenic Dysphagia (CAPND) guidelines, which assesses a range of clinical swallowing characteristics.
All children underwent speech assessment through sampling of language during play and conversation. Language development and production of sounds were assessed in this fashion. Children up to 3 years of age underwent the MacArthur Communicative Developmental Inventory. In this assessment tool, parents were provided with a questionnaire focusing on words and phrases that a child uses and understands. Children aged 2 years and above underwent the Goldman-Fristoe Test of Articulation 2, in which the child’s production of sounds in various positions of a word is assessed.
Modified surgical technique
Nasoendotracheal intubation was performed with an uncuffed tube. The surgical excision margins were marked ( Fig. 3 A) and 5 cc of 0.25% bupivicaine hydrochloride with 1:400,000 adrenaline was infiltrated into the surgical sites. Patients also received 0.15 mg/kg dexamethasone intravenously after induction. Tongue reduction surgery was performed using a ‘stellate/anterior wedge’ procedure with an anterior flap modification to debulk the tongue adequately ( Fig. 3 B) and to enable a satisfactory position within the oral cavity at rest. Incisions were initiated with a scalpel but excision of the tongue bulk was completed with diathermy to minimize blood loss.
