41 research outputs found

    Williams-Beuren Syndrome with Mirror Movements

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    To the Editor: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder caused by deletion of chromosome 7 at q11.23. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual disabilities, and various other manifestations [1, 2]. Here, we present a child with WBS who presented with abnormal involuntary hand movements..

    Review of literature for the striking clinic picture seen in two infants of mothers with systemic lupus erythematosus

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    Fertility and maintanence of pregnancy is impaired in patients with SLE, which is an autoimmune disease commonly seen in women of childbearing age, due to disease-causing autoantibodies. The auto-antibodies transplacentally passing to the fetus may destroy the specific fetal tissues according to their types. These harmful effects may also continue in postnatal life

    Transapical aortic balloon valvuloplasty in a 6-year-old child with unsuccessful retrograde approach

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    Severely stenotic aortic valves can be treated by percutaneous techniques. However, in rare conditions it could not be possible because of vascular access and valvular passage problems due to small and eccentric orifice. Hybrid approach to balloon aortic valvuloplasty may be considered an alternative to surgery. Here, we present a case of a patient with severe aortic stenosis who has had two failed attempts of percutaneous intervention
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