PEDODONTICS
WILLIAMS SYNDROME- A CASE REPORT
Neeta Chandwani 1a *, Marianna Velissariou 2b
1
Hamdan Bin Mohammed College of Dental Medicine, Dubai, UAE
2
European University College, Dubai, UAE a
DDS, MScD( Pediatric Dentistry), Visiting Clinician b
DMD, Year 3 Pediatric Dentistry Resident
Cite this article: Chandwani N, Velissariou M. Williams syndrome- a case report. Stoma Edu J. 2016; 3( 1): 86-91.
Received: January 12, 2016 Received in revised form: February 9, 2016
Accepted: May 3, 2016 Published online: January 12, 2016
ABSTRACT
Aim: The aim of this case report is to describe the medical and dental features of an 18 year old female diagnosed with Williams syndrome( WS). Summary: Williams syndrome is a rare, genetically determined multisystem disorder involving the cardiovascular system, musculoskeletal system, dysmorphic facies, intellectual disabilities and dental anomalies. Key learning points: The short term and long term dental management of patients with Williams syndrome is discussed. Keywords: Williams syndrome, diagnosis, cardiovascular abnormalities, dentofacial characteristics
1. Introduction Williams syndrome( WS), also referred to as Williams-Beuren syndrome is a congenital, multisystem disorder resulting from the de novo hemizygous microdeletion on chromosome 7( 7q11.23). In 1961, Williams et al reported a condition with supravalvar aortic stenosis, mental retardation, and abnormal facial features, based on their experience with 4 patients. 1 The following year, Beuren et al reported similar findings independently and expanded the phenotype to include peripheral pulmonary artery stenosis and dental malformations. 2 The incidence is around 1:10,000 live births. There is no gender or race predilection. Familial cases can occur, but are far less common than de novo cases. 3 The deletion involves 26 to 28 genes, including the ELN gene, which codes for the protein elastin. This has been demonstrated to be responsible for the vascular pathology in WS. The remaining deleted genes contribute to the phenotypic findings in these patients. 4 The disorder is characterized by growth and developmental deficiencies, cardiovascular defects( supravalvular aortic stenosis) dysmorphic facial features( Elfin facies), hypercalcemia, renal and gastrointestinal disorders, dental anomalies and several conductive and neurological abnormalities. The characteristic facial features include wide mouth, thick lips, full prominent cheeks, depressed nasal bridge, long philtrum, heavy orbital ridges, stellate irises, small chin and low ear implantation. 5 The dental anomalies include microdontia, abnormal tooth morphology, hypoplastic enamel defects, anterior crossbite, tongue thrusting, excessive interdental spacing and deep or open bite. Class II and III occlusions are also commonly seen in these individuals. 6 The clinical diagnosis of WS is based on recognition of the typical dysmorphic facial features, cardiovascular anomalies( supravalvular aortic stenosis, pulmonary stenosis), developmental delay and hypercalcemia. This is confirmed by the FISH( fluorescent in situ hybridization) test which detects the deletion of the elastin gene on the long arm of chromosome 7. 5 There is no specific treatment for WS. The treatment is multidisciplinary and an individualized approach is used to address the systemic disorders and developmental and cognitive disabilities. The aim of this report is to present an 18 yr old girl with WS; her clinical characteristics, diagnosis, treatment, dental anomalies, dental management and short term and long term prevention plan.
2. Case report
An 18.3 year old female, R. S, with a diagnosis of Williams syndrome presented herself to the European University College mobile screening van
* Corresponding author: Neeta Chandwani, DDS, MScD( Pediatric Dentistry) Visiting Clinician Hamdan bin Mohammed College of Dental Medicine, Dubai, UAE PO Box 60993, Dubai, UAE e-mail: neeta. chandwani @ hbmcdm. ac. ae
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