A Filipino Child with Schinzel-Giedion Syndrome

Authors

  • 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

DOI:

https://doi.org/10.47895/amp.vi0.5191

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.



Downloads

Published

2023-04-28

Issue

Vol. 57 No. 4 (2023)

Section

Articles

How to Cite

1.
A Filipino Child with Schinzel-Giedion Syndrome. Acta Med Philipp [Internet]. 2023 Apr. 28 [cited 2025 Apr. 24];57(4). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/5191

Most read articles by the same author(s)

<< < 1 2