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BAYRAKTAR, BILGE

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BILGE

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BAYRAKTAR

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Start date: 2015End date: 2017Author: BAYRAKTAR, Bilge

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    Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn
    (2016-12-01T00:00:00Z) BAYRAKTAR, Bilge; Bayraktar, Suleyman; ARSLAN, HÜSEYİN; ÇAKIR, FATMA BETÜL; BAYRAKTAR, BILGE; ÇAKIR, FATMA BETÜL
    The Freeman-Sheldon syndrome (FSS) (whistling face) is a congenital autosomal dominant disease (rarely described in its autosomal recessive form) characterized by small -whistling- mouth, a flat masklike face, joint contractures (commonly involving the fingers and hands) and underdevelopment of the nasal cartilage. Other clinical features include full forehead, deep set eyes, epicanthal folds, high palate, H-shaped cutaneous dimpling on the chin, ulnar deviation of the hands, seizures, and dislocation of the hip. A 10-day-old male newborn was admitted to our neonatal intensive care unit with jaundice and hyperthermia. He had fever of 42.5 degrees C, small whistling mouth, a flat mask-like face, joint contractures of the fingers, and ulnar deviation of the hands. The parents were consanguineous and one of the boys died when he was 1 years old due to intracranial hemorrhage. To our knowledge, there have been more than 60 cases diagnosed with FSS. This is the first reported case of Freeman-Sheldon syndrome associated with hemophilia A and the second case of FSS associated with fever without anesthesia.
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    Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report
    (2015-09-01T00:00:00Z) Bayraktar, Suleyman; BAYRAKTAR, Bilge; Elevli, Murat; BAYRAKTAR, BILGE
    Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography.