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Chiari I malformation as part of the Floating-Harbor syndrome?

Authors
  • Kurzbuch, Arthur R1
  • Magdum, Shailendra2
  • 1 Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Department of Pediatric Neurosurgery, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. Electronic address: [email protected] , (United Kingdom)
  • 2 Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Department of Pediatric Neurosurgery, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. , (United Kingdom)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Dec 01, 2016
Volume
59
Issue
12
Pages
615–617
Identifiers
DOI: 10.1016/j.ejmg.2016.10.011
PMID: 27815143
Source
Medline
Keywords
License
Unknown

Abstract

We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation.

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