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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