Abstract Title

Williams-Beuren Syndrome: A Case Report

RAD Assignment Number

501

Presenter Name

Tyler Reed

Abstract

Background: Williams-Beuren Syndrome (WBS), is a disorder caused by a hemizygous deletion of genes located on chromosome 7q11.23. Although, the deletion ranges in size from 1.55Mb to 1.85Mb, the elastin gene, ELN, is lost in all affected individuals. A wide variety of clinical manifestations have been seen among WBS patients including cardiovascular defects, cognitive impairment, and a distinctive facial features. The condition is usually diagnosed clinically at birth then confirmed with genetic testing. Due to the multisystem involvemnt of WBS, patient care is usually managed by multiple subspecialists. Accompanying psychosocial concerns frequently arise due to the low IQ and developmental delay seen in most WBS patients. In this report, we offer an overview of WBS and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions.

Purpose: In this report, we offer an overview of Williams-Beuren Syndrome and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions.

Methods: Chart review

Results: The majority of the patient’s care was managed by her primary care physician including continuation of current treatment, hospital follow ups, medication management and involving social work as needed.

Conclusions: This case demonstrates a primary care physician’s management of a complex genetic disorder due to limited access to subspecialists.

Research Area

Case Presentation

Presentation Type

Poster

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Williams-Beuren Syndrome: A Case Report

Background: Williams-Beuren Syndrome (WBS), is a disorder caused by a hemizygous deletion of genes located on chromosome 7q11.23. Although, the deletion ranges in size from 1.55Mb to 1.85Mb, the elastin gene, ELN, is lost in all affected individuals. A wide variety of clinical manifestations have been seen among WBS patients including cardiovascular defects, cognitive impairment, and a distinctive facial features. The condition is usually diagnosed clinically at birth then confirmed with genetic testing. Due to the multisystem involvemnt of WBS, patient care is usually managed by multiple subspecialists. Accompanying psychosocial concerns frequently arise due to the low IQ and developmental delay seen in most WBS patients. In this report, we offer an overview of WBS and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions.

Purpose: In this report, we offer an overview of Williams-Beuren Syndrome and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions.

Methods: Chart review

Results: The majority of the patient’s care was managed by her primary care physician including continuation of current treatment, hospital follow ups, medication management and involving social work as needed.

Conclusions: This case demonstrates a primary care physician’s management of a complex genetic disorder due to limited access to subspecialists.