Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
MeSH terms: Craniofacial Abnormalities
Study type: Observational

Summary: 
      This study will use stereo photogrammetry to: 1) characterize facial features of genetic and
      congenital malformations; 2) define facial features associated with normal growth and
      development; and 3) determine if stereo photogrammetry soft tissue imaging can be used to
      help diagnose head and facial malformations. These abnormalities currently are diagnosed
      using 2- or 3-dimensional skeletal images obtained with x-rays. Stereo photogrammetry uses a
      camera and computer to generate 3-dimensional images of the soft tissues of the face. Because
      the method does not use any radiation, images can be taken repeatedly to evaluate patients
      over a long term.

      Using stereo photogrammetry, images of people who belong to a defined group, for example,
      17-year-old Caucasian males, can be combined (or morphed) into one image, allowing
      measurement of the facial features of the group. Comparing the morphed images of a normal
      control group with those of people with specific genetic conditions may reveal distinctions
      that could be used in diagnosing conditions that are currently diagnosed using x-rays.

      Healthy normal volunteers and patients with craniofacial dysmorphologies may be eligible for
      this study. Patients are recruited from current NIH studies of various genetic diseases.
      People who have previously had head and neck surgeries, including cosmetic surgery, may not
      participate.

      Participants give a medical and dental history, including any orthodontic work or facial
      surgeries. They are then positioned in front of a photogrammetry camera, a headband is placed
      on their head, and their picture is taken. A coded patient number is entered into the
      computer, where the image is stored until further analysis. Most participants are evaluated
      one time, but some patients and control subjects may be asked to return yearly for repeat
      images.
    

Detailed description: 
      In previous decades, analysis of craniofacial dysmorphologies have been conducted using two-
      or three-dimensional imaging of skeletal tissues acquired through radiography, with little
      analysis of soft tissue structures. The advantages of stereophotogrammetry surface scanning
      include easy image acquisition, the procedure is non-invasive, and images may be easily
      repeatedly taken for longitudinal evaluation of facial morphology. No radiation is used in
      acquiring these images.

      The purposes of this study are to: 1) characterize the surface tissue facial features in
      different genetic diseases and syndromes; 2) define facial parameters of age-related growth
      and development; and 3) establish the use of stereophotogrammetry surface tissue imaging in
      aiding the diagnosis of genetic conditions and prediction of the clinic course of
      craniofacial dysmorphologies and associated genotypes.

      Procedures will entail the acquisition of facial images from patients with known and
      suspected dysmorphologies as well as healthy controls. Facial parameters of various patient
      groups will be characterized in a standardized manner. In addition, composite (mean) images
      of patients with a particular diagnosis will be compared with controls using software
      algorithms. These facial parameters will be used to calculate the sensitivity and specificity
      of this technology to predict the genetic dysmorphology.
    

Keywords: Facial Imaging; Genetics; Growth; Development; Diagnostics; Craniofacial Dysmorphologies; Facial Features