2,145
Participants
Start Date
January 13, 2015
Primary Completion Date
January 31, 2028
Study Completion Date
January 31, 2028
Craniosynostosis Network Environmental Survey
Questionnaire is administered to the mothers of affected participants regarding medical history and environmental exposures during pregnancy, delivery, and neonatal period. Optional.
2D/3D Photography
Full frontal and lateral face and other parts of the body may be taken for dysmorphic assessment. There is the risk of identification and loss of confidentiality. Optional.
Buccal Swab Cell Sampling
One or more swabs, like a Q-tip (for children), or saliva collection kit (for adults) will be used to collect buccal cells. With a swab, they will brush the inside of the mouth several times. With saliva collection kit, they will collect their saliva by spitting into a container several times using a commercially available saliva collection kit. Required.
Blood sampling
Venipuncture so that one teaspoon to tablespoons (1-20 ml.) of blood is collected. The volume drawn will be dependent on the age and size of the child. Minimal amounts may be required for DNA, but to establish a lymphoblastoid or iPS cell line at least 3 to 10 ml will be required independent of age. In the case of an infant, if 3 to 10 ml cannot be obtained, then a lymphoblastoid or iPS cell line will not be created. Optional.
Skin Biopsy
For those who do not undergo surgery or the skin removal is not considered part of the surgical procedure. After proper cleaning, a piece of skin the size of a pencil eraser (about 4 mm or 1/8 inch in diameter) will be removed (using a circular blade or scalpel) from the arm (inside of arm or forearm in a spot that is as unnoticeable as possible). This area will be covered with a Band-Aid. No stitches are usually required. A crust will form and eventually fall off. Optional.
Tissues from a Clinically Indicated Procedure
In some instances when there is discarded tissues and specimens (including skin and bone at the time of reconstructive craniofacial surgery), they will be collected by making arrangements with their physicians. Some of these tissues will be used to generate cell lines. Optional.
Pre-operative CT Scan Image Files.
Optional for those who had a previous CT scan for a prior traumatic event.
New York University, New York
Icahn School of Medicine at Mount Sinai, New York
Birth Defect Registries of New York State, Albany
Pennsylvania State University, University Park
Pennsylvania State Milton S. Hershey Medical Center, Hershey
Johns Hopkins University, Baltimore
University of Bordeaux, Talence
National Birth Defects Prevention Study at University of Iowa, Iowa City
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago
University Hospital Heidelberg, Heidelberg
Medical City Children's Hospital, Dallas
University of Texas at Southwestern, Dallas
INSERM/ Hospital Necker-Enfants Malades, Paris
Seton Family of Hospitals, Austin
University of Utah, Salt Lake City
The International Craniosynostosis Consortium at University of California at Davis, Davis
Yale University, Hartford
Boston Children's Hospital, Boston
Hospital Sant Joan de Deu, Barcelona
Oxford University, Oxford
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Icahn School of Medicine at Mount Sinai
OTHER