WILLIAMS SYNDROME- A CASE REPORT
Figure 8. Orthopantomogram
She was very friendly and engaging which is the characteristic‘ cocktail party’ nature of individuals affected by this syndrome. She also liked to sing after every visit.
3. Discussion
Williams syndrome is a rare, genetic disorder with the occurrence of characteristic physical and mental abnormalities. The incidence of the features noted in this condition are dysmorphic facies( 100 %), cardiovascular disease( most commonly supravalvar aortic stenosis [ 80 %]), mental retardation( 75 %), a characteristic cognitive profile( 90 %), and idiopathic hypercalcemia( 15 %) 5 The deletion of the elastin gene is responsible for the connective tissue phenotype, which includes a hoarse voice, soft skin, lax ligaments, vasculopathy, mainly supravalvular aortic stenosis, the impression of premature aging and stiffness of joints. 5, 8 The pathogenesis of other characteristics, such as hypercalcemia, mental retardation and unique personality traits may be explained by the loss of one or more genes contiguous to the ELN gene. 5 Diagnosis is often made in mid-childhood when characteristic features, cognitive profiles and cardiac findings become more apparent. Our patient was diagnosed late at 11 yrs of age because the mother noticed that the child was a very slow learner and she was not growing as fast as her siblings. The pediatrician suspected Williams syndrome based on the child’ s facial characteristics and made a referral to the cardiologist who diagnosed the presence of supravalvular aortic stenosis. The diagnosis was confirmed by the FISH test. The lack of advanced care facilities in the area where the patient was born and raised in early childhood led to the delay in diagnosis. The characteristic facial features noted in most children with WS are similar and often become more apparent with advancing age. Infants have full cheeks and a flat facial profile, whereas older children and adults often have a long narrow face and a long neck accentuated by sloping shoulders( 8). Blue- and green-eyed children with WS have a prominent“ starburst” pattern to their irises( stellate iris). 5, 8 The reported patient did present the characteristic facial features such as small upturned nose, periorbital fullness, wide mouth, full lips and small chin, in addition to an aging facial appearance and presence of multiple white hairs. She also had low muscle tone, visual spatial defects, a slight developmental delay and a very engaging personality as seen with persons affected by this syndrome. The patient was diagnosed with supravalvular aortic stenosis which did not require any surgery. A consultation was conducted by her cardiologist before any dental treatment was performed. According to the current AAPD guidelines, 9 antibiotics were not required for SBE prophylaxis prior to dental treatment. Individuals with cardiac manifestations should be followed regularly by their cardiologist as supravalvar aortic stenosis is an often progressive condition that may require surgical repair. Peripheral pulmonary artery stenosis is often present in infancy and usually improves over time. Because the elastin protein is an important component of elastic fibers in the arterial wall, any artery may become narrowed. 5 In infants with WS, the presence of colic, irritability, vomiting, muscle cramps and constipation can be attributed to hypercalcemia. Symptomatic hypercalcemia usually resolves during childhood, but lifelong abnormalities of calcium and vitamin D metabolism may persist. 10 Multivitamins with Vitamin D are contraindicated in these patients. The cognitive and behavior profile is one of the key elements of this syndrome. Patients often present mild intellectual disability, strong language skills
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