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  1. Marfan Syndrome 
    https://medlineplus.gov/marfansyndrome.html
    Marfan syndrome is a disorder that affects connective tissue. Marfan syndrome can be mild to severe. Read about symptoms ... Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ...
  2. FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... GeneReviews Advanced Search Help < Prev Next > FBN1 -Related Marfan Syndrome Harry Dietz , MD. Author Information and Affiliations Harry ... shows aortic root dilatation (z score ≥3). Potential Marfan syndrome. If an FBN1 pathogenic variant that has not ...
  3. Marfan syndrome 
    https://medlineplus.gov/ency/article/000418.htm
    Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders ... Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role ...
  4. Marfan syndrome (image) 
    https://medlineplus.gov/ency/imagepages/9611.htm
    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...
  5. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... TGFBR2 Nonsyndromic heritable thoracic aortic disease Differential Diagnosis Marfan Syndrome and Shprintzen-Goldberg Syndrome FBN1 -related Marfan syndrome ...
  6. Easy-to-Read Health Information 
    https://medlineplus.gov/all_easytoread.html
    ... Library of Medicine) - PDF Also in Spanish M Marfan Syndrome What Is Marfan Syndrome? (National Institute of Arthritis and Musculoskeletal and Skin ...
  7. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... syndrome associated with thoracic aortic disease (e.g., Marfan syndrome , Loeys-Dietz syndrome ). A genetic cause of HTAD ... majority of individuals with a clinical diagnosis of Marfan syndrome or Loeys-Dietz syndrome. However, a genetic cause ...
  8. xmlmplus_topics_2025-04-26.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-26.xml
    ... LINKTEXT="Ehlers-Danlos syndrome"/>, <TOPIC ID="939" LINKTEXT="Marfan syndrome"/>, and <TOPIC ID="940" LINKTEXT="osteogenesis imperfecta"/></li> < ... topic><related-topic >Lupus</related-topic><related-topic >Marfan ... >Osteogenesis Imperfecta</related-topic>< ...
  9. Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1386
    ... GeneReview . Since the differential diagnosis of CCA includes Marfan syndrome and Loeys-Dietz syndrome , clinicians requesting a panel ... Diagnosis Disorder Overlapping w/CCA Distinguishing from CCA Marfan syndrome FBN1 AD Marfanoid habitus, dolichostenomelia Arachnodactyly Pectus deformity, ...
  10. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall ... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome.</html:p></html></text></ ...
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