title: 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.
  
  
  METHODS
  Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity.
  
  
  CONCLUSIONS
  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.
authors: Eunice Kennedy Shriver Center UMMS, Waltham, Massachusetts 02452, USA. cdeutsch@shriver.org
authors: Curtis K
authors: CK
authors: Deutsch
authors: Tania
authors: T
authors: Hreczko
authors: Lewis B
authors: LB
authors: Holmes
mesh_terms: D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000473:pathology*; D002508:Cephalometry; D004476:Ectodermal Dysplasia / Q000473:pathology*; D006130:Growth Disorders / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D007037:Hypothyroidism / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009666:Nose / Q000002:abnormalities* / Q000473:pathology; D010182:Pancreatic Diseases / Q000473:pathology*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases