View clinical trials related to Craniosynostosis.
Filter by:The primary objectives of this study are - to procure human temporalis muscle, subcutaneous adipose (fat), and bone tissue samples from children with craniosynostosis, - to grow cells from these tissues in vitro, - to evaluate the osteogenic potentials of these cell types.
This is a prospective study to evaluate outcomes in patients undergoing endoscopic craniectomy for isolated, single-suture craniosynostosis.
This is a randomized, blinded, prospective study that will investigate the potential benefit of tranexamic acid to reduce the intraoperative bleeding and blood transfusions in pediatric patients undergoing craniofacial surgeries.
This study will try to find the gene changes responsible for the birth defects in craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions that result from closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete. Because of the premature closure, the brain is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include skull malformations and webbing of the fingers and toes. Gene changes known to be involved in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome. Therefore, finding the genetic basis of this disorder will provide important new information regarding craniofacial and limb development. This study includes members of a single large family affected with craniosynostosis, Philadelphia type. Participants have 1 to 2 teaspoons of blood drawn for genetic studies. A second blood sample may be requested for further research. Some blood may be used to establish a cell line for later studies. This involves growing the white blood cells from the blood sample. The cells can be kept in the laboratory to make more DNA or can be frozen for later use in craniosynostosis studies. Patients may also have their medical records reviewed.
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: - Review of medical records and test results. - Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. - Physical, neurological, ear, nose and throat, dental, and eye examinations. - Neuropsychological testing to assess cognitive thinking abilities. - Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions. - MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. - MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images. - CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied. - Dental evaluation with x-rays. - Skeletal survey (x-rays of all bones of the body). - Developmental assessment of IQ testing. - Blood tests for research purposes. A cell line may be established for use in future research. - Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet. - Other consultations or tests as clinically indicated
To learn more about the cognitive and motor development of infants and young children born with a craniofacial defect called craniosynostosis.