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Familial odontoid hypoplasia

✍ Scribed by Cathy A. Stevens; Richard G. Pearce; Edward M. Burton

Book ID: 101452103
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 105 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32860

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✦ Synopsis

Abstract

Odontoid hypoplasia is a developmental abnormality, which is often asymptomatic. However significant sequelae can occur in some individuals, particularly after head or neck trauma. This anomaly is not generally known to be familial. We report on four affected individuals in the same family with odontoid hypoplasia, suggesting autosomal dominant inheritance. This is an important observation in that evaluation of family members is warranted in order to identify those at risk of neurologic compromise. © 2009 Wiley‐Liss, Inc.

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