A Filipino Child with Schinzel-Giedion Syndrome
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
Issue
Section
Articles