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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.


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

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

Deutsch Curtis K CK   Hreczko Tania T   Holmes Lewis B LB  

Birth defects research. Part A, Clinical and molecular teratology 20130306 3


<h4>Background</h4>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.<h4>Case</h4>Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity.<h4>Conclu  ...[more]

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