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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Nancy Braverman is a Pediatrics specialist and a Medical Genetics expert in Baltimore, Maryland. Braverman is rated as an Elite expert by MediFind in the treatment of Rhizomelic Syndrome. She is also highly rated in 21 other conditions, according to our data. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia Maroteaux Type. She is licensed to treat patients in Maryland. Braverman is currently accepting new patients.
Erminia Di Pietro practices in Canada. Di Pietro is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Zellweger Syndrome, and Rhizomelic Syndrome.
Denise Horn practices in Berlin, Germany. Horn is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. She is also highly rated in 54 other conditions, according to our data. Her top areas of expertise are Cohen Syndrome, Learman Syndrome, Hypotonia, and Acromicric Dysplasia.
Summary: The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...