| Literature DB >> 27815143 |
Arthur R Kurzbuch1, Shailendra Magdum2.
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. Copyright ÂEntities:
Keywords: Chiari I malformation; Floating-Harbor syndrome; SRCAP; Speech delay
Mesh:
Year: 2016 PMID: 27815143 DOI: 10.1016/j.ejmg.2016.10.011
Source DB: PubMed Journal: Eur J Med Genet ISSN: 1769-7212 Impact factor: 2.708