Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams–Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years

Abstract

Williams–Beuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous deletion of the elastin gene on chromosome 7q11.23. WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. In this case report, we present the combined orthodontic and surgical treatment of a WBS patient with an isolated cleft palate through a long-term follow-up from the age of 5 to 24 years. During the period of active treatment, comprehensive orthodontic treatment combined with maxillary anterior segmental distraction osteogenesis and prosthetic treatment using dental implants were effective in dramatically improving the patient's malocclusion. The patient's mental abilities and the cooperation shown by the patient and her family were crucial for the success of this complex and long-term treatment course.

Williams–Beuren syndrome: a complete guide for oral healthcare

“…Yamaguchi et al have reported the treatment of a 4 year old WBS patient with isolated cleft palate who was followed up of 20 years [32]. They successfully completed non invasive procedures such as orthodontic treatment, invasive procedures such as maxillary anterior segmental distraction osteogenesis and dental implant supported prosthetic rehabilitation.…”

Williams-Beuren Syndrome: What Orthodontists Need to Know

“…The facial appearance -called the "gnome" or "elf" type, is characterized by a broad forehead, prominent ears, small nose with wide tip, depressed nasal bridge, long filter, increased inter-commissure distance, protruding lips, full cheeks, and small mento. In addition, there is a high prevalence of Class II and III Angle malocclusions, increased mandibular plane, excessive interdental spaces, teeth hypoplasia, microdontia, dental agenesis, and macroglossia (Williams et al;Beuren et al;Kaplan;Moskovitz et al;Yamaguchi et al, 2017).…”

“…A multidisciplinary follow-up is fundamental and, inevitably, an orthodontic evaluation is necessary, considering the risks involved by the presence of the systemic pathologies and the possibility that the correction of the malocclusion would represent in the quality of life of these patients. Surprisingly, the literature is poor (Habersack et al, 2007;Grecchi et al, 2011;Vieira et al, 2015;Yamaguchi et al) regarding possible orthodontic interventions in patients with WBS.…”