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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