Chiari I malformation as part of the Floating-Harbor syndrome?
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]
Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Department of Pediatric Neurosurgery, Headley Way, Headington, Oxford OX3 9DU, United Kingdom.
- Published Article
European journal of medical genetics
- Publication Date
Dec 01, 2016
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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This record was last updated on 06/09/2018 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/27815143