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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.



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