The aorta is the large blood vessel that carries blood from the heart to rest of the body. Just before birth this vessels gets constricted(stenosis)and goes undetected many a times. JCP William in 1961 was the first to correlate this defect with mental retardation. Later Beuren also noticed a subsequent heart defect causing narrowing of pulmonary artery, the large blood vessels that takes blood from the right ventricle of the heart to the lungs. Beuren correlated these heart defects with peculiar oro-facial manifestation also knows as elfin facies. William Beuren Syndrome or Elfin Facies Syndrome impacted 1 in 7,500 people.
Research could pin point the congenital defect due to aberration in chromosome 7(7q11.23)elastin gene & LIM-kinase(LIMK1).A simple diagnostic blood test using fluorescent in situ hybridization(FISH)could detect this elastin deletion. As a result of the haploinsufficiency this chromosomal disease affected multi system(heart, lung, kidney, brain, eyes and ears). Morbidity is higher due to hyploplasia/coarctation of heart, stenosis of lungs, impaired renal function with hypercalcemia, increased blood urea and creatinine levels. Neurological impairment in motor integration caused decrease in their ability to cooperate and impairment of viscospatial cognition manifested as delayed motor and speech response. Ophthalmological abnormalities with lacy pattern of the eyes is other characteristic peculiar with children’s of William’s Syndrome.
These dimorphic features are classified under Belostosky Mass as short cranial base, steep angle of mandible plane, disproportion of facial height and deficient chin. Malocclusion is seen in 85% with Class 2 and 3 along with open /deep and crossbite tendency towards micrognathia. Tooth agenesis, oligodontia, microdontia, screw drivers shaped incisors, bud shaped maxillary primary molar (12%)and mandibular permanent molars(40%),pulp stones, small roots, osteosclerotic changes with laminadura of premolar roots are other common features seen. Almost 50 % have predilection to anterior dental spacing along with high arch palate.Others frequently show retained primary teeth with permanent teeth adding to discrepancy. Hypoplasia leading to severe dental decay worsened by sugary medicine and high sucrose diet. Erosion of teeth is subjected to severe and frequent vomiting episode.
Most of the children are hyperactive and almost 75-95% suffer hyperacusis( extreme sensitivity to sound).Therefore a specialist paediatric dentist can help assisting in behaviour modification and dental management by tell, show, do easing out any sudden distraction and decreasing sudden involuntary movement to reduce anxiety episodes.Mostly music is their favourite therapy and audio visual aids brings down the anxiety and enhances their confidence with the child dental specialist.
If decay is neglected it complicates dental treatment due to hypoplasia ,short roots, difficulty in root canals, extreme sensitive behaviours and mental disability.Most of them require antibiotic prophylaxis before treatment under sedation.Incremental screening and nutritional consulting is the basis of the preventive program and requires health body to support the needs of children with William Beuren Syndrome.
GAMEFACE 