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
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
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.
- INCLUSION CRITERIA:
1. Male and female subjects of all ages and racial groups. The lower age limit will
be determined by the ability to cooperate with imaging.
2. Patient populations recruited from current NIH Intramural Studies with various
defined genetic diseases such as Fanconi anemia.
3. Controls recruited from the families of patients with genetic or congenital
diseases, healthy volunteers participating in other NIH studies, or non-affected
populations at collaborating institutions.
1. Patients or controls with a history of head and neck surgery to include cosmetic
2. Patients unable to cooperate with imaging.