Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

ABSTRACT:

Background

Here we apply objective, reliable methods of dysmorphology diagnosis to a patient with Johanson-Blizzard syndrome (MIM #243800). Using an extensive normative database, we computed standardized scores on a graded continuum for operational definitions of nasal alar hypoplasia, a commonly observed feature of this condition.

Case

Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity.

Conclusion

This report provides a worked example of quantitative anthropometric assessment in the context of a case report, using tools that may find general application in clinical genetics.

SUBMITTER: Deutsch CK 

PROVIDER: S-EPMC3656659 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature