A Filipino child with schinzel-giedion syndrome

Author: Mary Ann R. Abacan ¹ ; Rhea Angela M. Salonga-Quimpo ²
Author Information

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
Publication Type:Case Reports
Keywords: Schinzel-Giedion; SETBP1; coarse facies; midface retraction
From: Acta Medica Philippina 2023;57(4):63-67
CountryPhilippines
Language:English
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.
Full text:A Filipino Child with Schinzel-Giedion Syndrome.pdf