Williams syndrome

Overview

Board takeaway: Obtain cardiovascular and anesthesia risk assessment before sedation or general anesthesia; adapt visits to sound sensitivity and learning needs.

Supravalvular aortic stenosis and other vascular disease increase anesthesia risk; sound sensitivity can affect cooperation.

How does Williams syndrome affect dental management?

• Assessment: Cardiology and anesthesia assessment before sedation or GA; this is a high-risk anesthesia patient even if the child looks well
• Setting: Select sedation/GA and the venue after cardiovascular risk assessment.
• Higher or uncertain risk: Significant outflow obstruction, coronary involvement, or uncertain risk calls for an experienced pediatric/cardiac anesthesia team with appropriate hospital support.
• Sound sensitivity: Reduce noise (hyperacusis: suction and handpieces), prepare the child for sounds
• Medical review: review the child’s calcium, renal, blood-pressure, and endocrine history; obtain additional tests when the medical/anesthesia team identifies a clinical indication.
• Communication and consent: assess understanding directly, use concrete explanations, and involve the child in assent.
• Consent and capacity: Obtain consent from the appropriate decision-maker; sociability or the syndrome label does not establish capacity.

Exam pearl

What is Williams syndrome?

A chromosome 7q11.23 deletion disorder with characteristic developmental and behavioral features, cardiovascular disease, and variable connective-tissue and endocrine findings.

What are the main systemic features of Williams syndrome?

• Genetics: 7q11.23 microdeletion including the elastin gene (ELN); mostly de novo; ~1 in 7,500
• Face: Characteristic facial features: broad forehead, periorbital fullness, stellate iris, short upturned nose, wide mouth, and full lips
• Vascular disease: Supravalvular aortic stenosis, peripheral pulmonary stenosis, generalized arteriopathy and hypertension
• Anesthetic risk: Sudden death risk under sedation or anesthesia with coronary involvement and biventricular outflow obstruction
• Calcium and development: Infantile hypercalcemia; often sociable communication style with variable learning needs, anxiety, and sound sensitivity (hyperacusis)

What oral findings occur in Williams syndrome?

• Size and number: Microdontia, widely spaced teeth, hypodontia
• Structure: Taurodontism, enamel hypoplasia, abnormal tooth shape
• Occlusion: Class II or Class III and open bite; tongue thrust

For Williams syndrome, why does supravalvular aortic stenosis matter for anesthesia?

• Supravalvular aortic stenosis from elastin gene deletion, with generalized arteriopathy and possible coronary involvement
• Sudden death risk under sedation/anesthesia
• Cardiology/anesthesia assessment before any sedation or GA

Sources

• AAPD dental guidance: AAPD: Monitoring and management of pediatric sedation
• Supplemental systemic features: MedlinePlus Genetics: williams syndrome
• Supplemental study guide: Pediatric Dental Study Guide: Williams Syndrome
• Management of Dental Patients with Special Health Care Needs
• Behavior Guidance for the Pediatric Dental Patient
• Cardiology Consultation for Pediatric Dental Patients