University of Massachusetts Medical School Faculty Publications


Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome

UMMS Affiliation

Shriver Center; Intellectual and Developmental Disabilities Research Center

Publication Date


Document Type



Anus, Imperforate; Ectodermal Dysplasia; Growth Disorders; Hearing Loss, Sensorineural; Hypothyroidism; Intellectual Disability; Nose; Pancreatic Diseases


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics and Genomics


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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Citation: Deutsch CK, Hreczko T, Holmes LB. Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):166-9. doi: 10.1002/bdra.23121. Epub 2013 Mar 6. PubMed PMID: 23463671; PubMed Central PMCID: PMC3656659. Link to article on publisher's site

Related Resources

Link to Article in PubMed


Johanson-Blizzard syndrome, autosomal recessive, UBR1 mutations, anthropometry, craniofacial dysmorphology

Journal/Book/Conference Title

Birth defects research. Part A, Clinical and molecular teratology

PubMed ID