Coexistence of oto-palato-digital syndrome type II and Arnold-Chiari I malformation in an infant.
A Taiwanese infant with clinically apparent oto-palato-digital syndrome type II had Arnold-Chiari I malformation. Arnold-Chiari I malformation has not been reported previously to occur in association with oto-palato-digital type II syndrome. The pathogenesis of both conditions has remain unclear although the Arnold-Cliari I malformation is most likely due to a developmental abnormality of improperly times or incomplete closure of the neural tube. We propose the physician who care for children with OPD type II must be aware of one more condition.
Hung
P C
PC
Division of Pediatric Neurology, Chang Gung Children's Hospital, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Wang
H S
HS
Lui
T N
TN
D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000473:pathology; D001133:Bones of Upper Extremity / Q000002:abnormalities; D002531:Cerebellum / Q000002:abnormalities; D002972:Cleft Palate / Q000150:complications; D003638:Deafness / Q000151:congenital; D004423:Ear / Q000002:abnormalities; D005529:Foot Bones / Q000002:abnormalities; D005624:Frontal Bone / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009139:Musculoskeletal Abnormalities / Q000150:complications* / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D013624:Taiwan