Related Experiment Video
Updated: May 13, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome
Curtis K Deutsch1, Tania Hreczko, Lewis B Holmes
1Eunice Kennedy Shriver Center UMMS, Waltham, Massachusetts 02452, USA. cdeutsch@shriver.org
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.
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