Crouzon Syndrome Overview
Learn About Crouzon Syndrome
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene are thought to result in production of an FGFR2 protein with overactive signaling, which causes the bones of the skull to fuse prematurely.
Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Corinne Collet practices in Paris, France. Collet and is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are Crouzon Syndrome, Craniosynostosis, Osteosclerosis Autosomal Dominant, Craniodiaphyseal Dysplasia, and Osteotomy.
Children's Surgical Associates Ltd
Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett and is rated as an Elite provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Craniosynostosis, Syndactyly, Apert Syndrome, Osteotomy, and Bone Graft.
Federico Di Rocco practices in Bron, France. Di Rocco and is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Craniosynostosis, Crouzon Syndrome, Acanthosis Nigricans, Craniectomy, and Osteotomy.
Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.
Summary: Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests un...
Published Date: January 01, 2020
Published By: National Institutes of Health