A Filipino Child with Schinzel-Giedion Syndrome

  • Mary Ann R. Abacan Division of Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
  • Rhea Angela M. Salonga-Quimpo Division of Pediatric Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila
Keywords: Schinzel-Giedion, SETBP1, coarse facies, midface retraction

Abstract

Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.



Published
2023-04-28
How to Cite
1.
Abacan MAR, Salonga-Quimpo RAM. A Filipino Child with Schinzel-Giedion Syndrome. Acta Med Philipp [Internet]. 2023Apr.28 [cited 2024Mar.29];57(4). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/5191
Section
Articles