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Autori: G. S. Doros, M. Gafencu, A. Popoiu, B. Zoica, J. Puiu;
Editorial: nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, p.132, 2008.
Aim: To present two cases of supravalvular aortic stenosis, selected from the group of aortic stenosis children, admitted in the IIIrd Paediatric Clinic in 2007, considered to be Williams syndrome. Williams syndrome is caused by the deletion of genetic material from the region q11.2 of chromosome 7, including more than 20 genes, several of these contributing to the characteristic features of this disorder.
Material and method: The patients were young children, one girl and one boy, extremly friendly, with moderate mental retardation, short stature, characteristic elfin face, joint laxity, systolic murmur and atraction to music. They performed clinical examination, ECG, echocardiography, cardiopulmonary X ray and angio CT, and after that they were refered to the genetician, ENT and ophtalmologic department.
Results: Supravalvular aortic stenosis was confirmed in both cases, associated with hypolasia of aortic arch and large coarctation of the aorta in girl. She had from birth irreductible inguinal hernia, operated in newborn period, followed by cardiopulmonary arrest, resuscitated. The inghinolabial hernia reoccur. She also still have feeding problems for semisolid food. Barium examination reveal large esofageal stenosis in the 1/3 inferior part. Both of them have proeminent lips with an open mouth, defective tooth enamel and spaced teeth. The girl associated hypercalcemia.
Conclusions: After examinations, both patients are able to be considered Williams syndrome. The FISH test to confirm this syndrome has to be done. They are in follow up programe and we intend, after confirmation of the genetic FISH test, to introduce them in Williams Syndrome Children Association.
Cuvinte cheie: stenoza aortica supravalvulara, sindrom Williams // supravalvular aortic stenosis*Williams syndrome