Three malformation complexes related to neural crest development.
We present an individual with three distinct malformation complexes, DiGeorge syndrome, CHARGE association and Dandy-Walker malformation. An extensive literature review has shown that DiGeorge syndrome and CHARGE association rarely occur simultaneously. The presence of both these malformation complexes with Dandy-Walker malformation has not been previously reported. These three malformation complexes may all be related by neural crest maldevelopment.
Squires
L A
LA
DeVos Children's Hospital, Grand Rapids, MI 49503, USA. lsquires@bw.brhn.org
Dieffenbach
A Z
AZ
Betz
B W
BW
D000015:Abnormalities, Multiple / Q000196:embryology*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000196:embryology*; D004062:DiGeorge Syndrome / Q000196:embryology*; D005314:Embryonic and Fetal Development / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009432:Neural Crest / Q000502:physiology*