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433 results
  • Complete primary pachydermoperiostosis: A case report from Jordan and review of literature. [Case Reports]
    Clin Case Rep 2019; 7(2):346-352Salah BI, Husari KI, … Rawashdeh B
  • Complete Primary Pachydermoperiostosis is a rare syndrome that presents with skin and skeletal manifestations. Though diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed due to variable presentations. Therefore, it is important to know about this syndrome to reach correct diagnosis.
  • Inborn Errors of Metabolism: Gyrate Atrophy. [Review]
    Adv Exp Med Biol 2018; 1085:183-185Tsang SH, Aycinena ARP, Sharma T
  • Gyrate atrophy is an autosomal recessive dystrophy in which night blindness starts early in the first decade of life. In the early stages, large areas of retinal pigment epithelium (RPE) and choriocapillaris (CC) atrophy in the far periphery (lobular shape, Fig. 37.1). (In choroideremia, atrophy appears in the mid periphery.) Later, these areas coalesce to form a characteristic scalloped border a…
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