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32 results
  1. Ehlers-Danlos syndrome 
    https://medlineplus.gov/ency/article/001468.htm
    ... prevent severe complications by vigilant screening and lifestyle alterations.
  2. ACTG2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299311
    ... inconsistent results [ Puri & Shinkai 2005 ]. Findings have included alterations in ganglion cells (rare), vacuolar degeneration in the smooth muscle layer with connective tissue infiltration between muscle cells in bowel and bladder, ...
  3. Cutis laxa: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/cutis-laxa
    ... which are the energy-producing centers of cells. Alterations in these genes appear to disrupt mitochondrial function, which could lead to the death of cells in the connective tissue that supports the skin. It is unclear if ...
  4. FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541503
    ... immunolabeling is often normal or shows only subtle alterations. Conversely, ... connective tissue. Collagen VI immunolabeling from the endomysium and basal ...
  5. PIK3CA-Related Segmental Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK153722
    ... gap toes Cortical brain malformations PMG Seizures DD Connective tissue dysplasia Skin hyperelasticity Joint hypermobility Thick, soft, (or " ... and toes, and hypoplastic and deep-set nails. Connective tissue dysplasia. Individuals with MCAP syndrome manifest varying degrees ...
  6. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... suggests the use of tentative diagnostic designations: Nonspecific connective tissue disorder. If the systemic score is <7 and/ ... mild skeletal dysplasia [ Meester et al 2017 ]. Other connective tissue disorders. Many of the skeletal features of Marfan ...
  7. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... superior to beta blockers in treating other vascular connective tissue disorders, such as Marfan syndrome. Genetic counseling. LDS ... dimensions that do not confer risk in other connective tissue disorders such as Marfan syndrome. Arterial tortuosity can ...
  8. Juvenile Polyposis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1469
    ... Wain et al [2014] reported features of a connective tissue disorder in 21% (7/34) of the affected individuals in their cohort. The connective tissue features were defined as: enlarged aortic root (in ...
  9. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... X-1. [ PubMed : 7518787 ] 547. Cabrera PO. The connective tissue graft with labial vestibular extension. Pract Periodontics Aesthet ... 624. Harris RJ. Creeping attachment associated with the connective tissue with partial-thickness double pedicle graft. J Periodontol. ...
  10. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic ... Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures ...
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