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
86 STOMA . EDUJ ( 2016 ) 3 ( 1 )