Beckwith-wiedemann syndrome: a case report

Beckwith-Wiedemann syndrome (OMIN130650) is a rare congenital condition (1/13,500 natives) characterized by hypergrowth, autosomal dominant inheritance, and gene dysregulation in the 11p15 chromosomal region. The diagnosis is made during the neonatal or postnatal period, when the affected fetus tends to grow at an accelerated pace in the second half of pregnancy and first years of life. The main features are gigantism, omphalocele, abdominal wall defect, renal dysplasia, and macroglossia. Macroglossia affects 88% to 99% of cases, interfering with the development of the face and leading to respiratory, swallowing, chewing, phonation, and mandibular hypertrophy disorders. Craniofacial dysfunctions induced by macroglossia can be treated in early childhood with partial glossectomy. A 12-year-old male patient sought dental care, without complaint of painful, presenting macroglossia, prognathism, open bite, and no glossectomy history. Orthodontic treatment was performed with a palate expander. According to the patient, the treatment improved sleep, phonation, and weight gain.