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NCT02287805
The purposes of this study are: * to better understand the experience of the announcement for the diagnostic of craniosynostosis to patients and their families to improve the understanding of it and it modes of appropriation * to compare the announcement process concerning "simple" and "complex" forms. * to identify the intra-family issues at the announcement of a genetic mutation. * to reconstruct the care course of patients by analyzing the time of the announcement and the post-operative period.
NCT06928727
Craniosynostosis are cranial deformations due to the premature closure of one or more cranial sutures. These deformations affect approximately one in 2.500 births. In most cases, craniosynostoses are isolated with unknown (non syndrome). On the other hand, 20% of these deformations are associated with other concentration (syndrome). Craniosynostosis has morphological (associated dysmorphism) and functional (growth conflict between the skull and the brain) repercussions. Ophthalmological disorders are frequent: refractive disorders, oculomotor disorders, optic nerve damage, sensory damage. This retrospective study aims to describe the ocular clinical characteristics associated with craniosynostosis in patients followed at the Amiens University Hospital.
NCT04704284
The purpose of this study is to develop and test the effectiveness and diagnostic quality of Zero Echo Time Magnetic Resonance Imaging (ZTE MRI) in comparison to CT.
NCT02229968
The purpose of this study is to determine whether Amicar (ε-aminocaproic acid) is effective in reducing blood loss in children undergoing craniofacial reconstruction surgery. The investigators hypothesize that Amicar will decrease intraoperative blood loss and decrease the need for perioperative blood product administration in children undergoing craniofacial surgery.
NCT03231085
Oral iron is commonly used in conjunction with EPO preoperatively for hemorrhagic surgeries in children and especially in the surgery of craniosynostosis. The bioavailability of oral iron is low and compliance with treatment is inconsistent. The aim of this study is to evaluate whether the use of ferric carboxymaltose by injection, which has a much better bioavailability, would make it possible to increase the preoperative hemoglobin level more effectively and thus reduce the risk of perioperative blood transfusion .
NCT06294626
It's an observational study. Purpose of the study: To evaluate the neuromotor development of scaphocephaly cases. 21 infants diagnosed with scaphocephaly aged 2-17 months were included. * Is there any delay in the neuromotor development of scaphocephaly cases? * If delay is observed, in which area is it most common? Denver-II Developmental Screening Test and Alberta Motor Infant Scale were applied to the participants.
NCT00106977
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
NCT00773643
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.