Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination.
METHODS
The authors report a child born with a constellation of findings including Chiari I malformation, Pierre Robin syndrome, and caudal regression syndrome. In addition, this child was found to have a fatty-infiltrated filum terminale and a low conus medullaris.


CONCLUSIONS
In isolation, the Chiari I malformation has been reported in patients with caudal regression and Pierre Robin syndrome. Speculation has been given to the possibility of a common insult to early mesodermal development and each of these pathological entities. To our knowledge, this is the first report of a single patient that possessed all three entities (i.e., Chiari I malformation, Pierre Robin syndrome, and caudal regression syndrome). Further case reports as this may shed light on the dysembryology that results in each of these diagnoses.
Tubbs
R Shane
RS
Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL 35233, USA. rstubbs@uab.edu
Oakes
W Jerry
WJ
D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010855:Pierre Robin Syndrome / Q000150:complications* / Q000473:pathology; D016135:Spinal Dysraphism / Q000150:complications* / Q000473:pathology