04 July 2024

---

Dental management of patient with Williams Syndrome - A case report

---

Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26–28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

Introduction

Williams syndrome is a multisystemic rare genomic disorder that was first described, in 1961, by a cardiologist from New Zealand, Dr. J.C.P. Williams.[1] This syndrome is also called as Williams-Beuren syndrome after Dr. A J Beuren from Germany.[2] Williams syndrome is caused by a deletion of 26–28 genes in the long arm of chromosome 7 at 7q11.23. The deletion occurs at the time of conception. Williams syndrome has a prevalence rate of 1 in 10,000 individuals[3] to 1 in 25,000 individuals in certain ethnicities.[4] It is characterized by a number of developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Williams syndrome is usually diagnosed by fluorescent in situ hybridization (FISH) test, multiplex ligation-dependent probe amplification, or chromosome microarray, which detects the deletion of elastin gene on the long arm of chromosome 7.[4]

Studies have reported increased frequency of dental abnormalities in Williams syndrome, including malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Because of these anomalies, the dentist contributes significantly to the successful overall management of these patients.[5] The presence of underlying medical disorders such as cardiovascular problems, hypertension, hypercalcemia, and kidney aliments may necessitate certain changes in the treatment protocol to be followed by the dentist.[6] In spite of the major advances in the diagnosis and possible supportive care for patients with Williams syndrome, the risk of sudden death still exists.[7] The risk of sudden cardiac death is 25–100 times greater in patients with Williams syndrome compared to the general population. The dental clinician should be knowledgeable of the precautions and protocol to be followed while treating patients with Williams syndrome. Authors report the dental features and conditions in a 17-year-old female patient with Williams syndrome.

Authors: Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

Source: https://journals.lww.com/