Chiari I malformation as part of the Floating-Harbor syndrome?
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.
Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Department of Pediatric Neurosurgery, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. Electronic address: kurzbuch@web.de.
Arthur R
AR
Kurzbuch
Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Department of Pediatric Neurosurgery, Headley Way, Headington, Oxford OX3 9DU, United Kingdom.
Shailendra
S
Magdum
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics* / Q000503:physiopathology; D010146:Pain / Q000235:genetics / Q000503:physiopathology
Chiari I malformation; Floating-Harbor syndrome; SRCAP; Speech delay