WILLIAMS SYNDROME - A CASE REPORT
Figure 1 . Frontal View
Figure 2 . Profile View
Figure 3 . Intraoral Frontal View
in Dubai , United Arab Emirates .
2.1 . Medical History The patient was of Palestinian descent and was the youngest in a family of five children . The parents reported a consanguineous marriage and had no other children that were affected . According to the mother , the pregnancy and delivery were both normal . The diagnosis of WS was suspected only when the child was 11yrs old , based on her slow learning abilities and distinct facial characteristics . A cardiology evaluation revealed mild to moderate supravalvular aortic stenosis . A FISH test was requested by the pediatrician which showed a mutation on chromosome 7 , location q11.23 , gene ELN , which confirmed the diagnosis of WS . The patient presented the following features , characteristic of the disorder : Medical : Supravalvular aortic stenosis , low weight , low muscle tone , constipation . Physical facial features : Small upturned nose , wide mouth , full lips , long philtrum , small chin and puffiness around the eyes .
Personality : Very engaging , overly friendly , str ong expressive language skills . She had exceptional musical abilities , played the flute and was a singer . Developmental : Learning and attention difficulties , visual – spatial deficits and difficulty with fine motor movements .
2.2 . Dental History A detailed history , extraoral examination , intra oral examination and radiographic evaluation were conducted . Extra oral examination revealed the characteristic ‘ elfin facies ’ with broad forehead , small upturned nose , wide mouth , long philtrum , full lips and cheeks , small chin and puffiness around the eyes . ( Figs 1 and 2 ) Intra oral examination revealed a full complement of permanent dentition with class III molar occlusion bilaterally ; generalized plaque induced gingivitis ; existing amalgam fillings in teeth 16 , 27 and composite fillings in teeth 17 , 15 , 14 , 11 , 21 , 24 , 25 , 26 , 36 , 46 . ( FDI Notation System ). Teeth 12 ,
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