Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report.
The authors present the case of a child diagnosed as having Beckwith-Wiedemann syndrome and Chiari I malformation. Hemihypertrophy is associated with Beckwith-Wiedemann syndrome and has been described in conjunction with Chiari I malformation. The authors hypothesize that the hemihypertrophy that may involve the skull base and Chiari I malformation found in their patient are not spurious findings but are pathologically related, perhaps by slight dysmorphologies of the posterior cranial fossa.
Tubbs
R Shane
RS
Department of Cell Biology and Section of Pediatric Neurosurgery, University of Alabama at Birmingham, USA. richard.tubbs@ccc.uab.edu
Oakes
W Jerry
WJ
D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications* / Q000503:physiopathology; D002675:Child, Preschool; D005094:Exophthalmos / Q000150:complications; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D006984:Hypertrophy; D008279:Magnetic Resonance Imaging; D009129:Muscle Tonus; D018482:Muscle, Skeletal / Q000503:physiopathology; D010859:Pigmentation Disorders / Q000150:complications; D012867:Skin / Q000254:growth & development