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Coexistence of oto-palato-digital syndrome type II and
Arnold-Chiari I malformation in an infant.

Hung PC, Wang HS, Lui TN.

Division of Pediatric Neurology, Chang Gung Children's Hospital, College of Medicine, Chang
Gung University, Taoyuan, Taiwan.

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

PMID: 10522528 [PubMed - indexed for MEDLINE]