Roger Freeman
Ontology highlight
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PROVIDER: S-EPMC521055 | biostudies-literature | 2004 Oct
REPOSITORIES: biostudies-literature
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Project description:A leader in paediatric neonatology, an editor at the BMJ, and an internationally acknowledged expert on the life and works of the poet and philosopher James Beattie
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Project description:Clinical descriptionFreeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired.EpidemiologyPopulation prevalence of FBS is unknown.AetiologyEnvironmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed.ManagementOptimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.
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Project description:Health tsars: spin or substance?: Eight health directors (“tsars”) were appointed from 1999 to 2002. Katherine Burke asked them to summarise their achievements and other people to assess their work. A ninth “tsar”, Dr Sue Roberts, was appointed in March 2003 to cover diabetes. The full text is accessible at www.bmj.com
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