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.
James Bradley is a Plastic Surgeon and an Oral and Maxillofacial Surgeon in North New Hyde Park, New York. Bradley has been practicing medicine for over 32 years and is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Crouzon Syndrome, Acrofacial Dysostosis Rodriguez Type, Acrofrontofacionasal Dysostosis Syndrome, Bone Graft, and Endoscopy. Bradley is currently accepting new patients.
Jesse Taylor is a Plastic Surgeon in Chalfont, Pennsylvania. Taylor has been practicing medicine for over 23 years and is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Craniosynostosis, Crouzon Syndrome, Acrofacial Dysostosis Rodriguez Type, Bone Graft, and Posterior Fossa Decompression. Taylor is currently accepting new patients.
Corinne Collet practices in Paris, France. Collet is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Crouzon Syndrome, Osteosclerosis Autosomal Dominant, Craniosynostosis, and Camurati-Engelmann Disease.
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: The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in serum cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and serum cholesterol and cholesterol precursor metabolites will be measured.
Published Date: January 01, 2020Published By: National Institutes of Health