Ontology highlight
ABSTRACT:
SUBMITTER: Deutsch CK
PROVIDER: S-EPMC3656659 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
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]