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Publications (2)0 Total impact

  • Article: THE ASSOCIATION OF COMMON ATRIUM AND SMITH-LEMLI-OPITZ SYNDROME IN AN INFANT
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    ABSTRACT: Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect is found in half of the Smith-Lemli-Opitz syndrome patients. To our knowledge, the association of common atrium and Smith-Lemli-Opitz syndrome has not been described before in the medical literature. We present a 4-month-old infant case of such association.
    Marmara Medical Journal. 01/2008;
  • Article: Papillon-Lefevre Syndrome
    Pirgon Özgür, Mehmet Emre Atabek, Sert Ahmet
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    ABSTRACT: Papillon-Lefevre Syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age. Papillon-Lefevre Syndrome is characterized by the development of palmar-plantar hyperkeratosis and early loss of the primary (deciduous) and permanent teeth due to rapidly progressive periodontopathy. The primary (deciduous) teeth frequently become loose and fall out by about five years of age. In the general population, the disorder occurs in approximately one to 4 individuals per 1.000.000. Here we present a Papillon- Lefevre Syndrome case, which is rarely seen, with a review of the literature.
    Erciyes Medical Journal. 01/2007;