A Filipino Child with Schinzel-Giedion Syndrome

Mary Ann R Abacan; Rhea Angela M Salonga-Quimpo

doi:10.47895/amp.vi0.5191

A Filipino Child with Schinzel-Giedion Syndrome

Acta Med Philipp. 2023 Apr 28;57(4):63-67. doi: 10.47895/amp.vi0.5191. eCollection 2023.

Authors

Mary Ann R Abacan¹, Rhea Angela M Salonga-Quimpo²

Affiliations

¹ Division of Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila.
² Division of Pediatric Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila.

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.

Keywords: SETBP1; Schinzel-Giedion; coarse facies; midface retraction.

Publication types

Case Reports