Intra-oral devices are sometimes helpful. Pathogenic variants in TNXB could be considered in persons with joint laxity in the absence of easy bruising or skin hyperextensibility. Surgical intervention is often disappointing and should be considered only as a last resort. However, it is clear that locus heterogeneity exists for hypochondroplasia because pathogenic variants in other as-yet unidentified genes can result in similar, if not identical, phenotypes. Absence of fragility or other significant skin or soft-tissue abnormalities. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affected or at risk. Comments 0 Share what you think.
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Prevention or control of pain with regularly scheduled dosing is often more successful than acute treatment with as-needed dosing. If the aortic root diameter is increased or accelerating faster than body surface area, more frequent monitoring is appropriate. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Switch to new thesaurus. In individuals with milder skin manifestations but still more than typically seen in the hypermobility typeno consistent pathogenic variants in any genes have been found. We were urged to get a referral to an orthopaedic surgeon. Extensor surfaces of joints have excess skin and should not be used.