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125 results
  1. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... disease TGFBR2 Nonsyndromic heritable thoracic aortic disease Differential Diagnosis Marfan Syndrome and Shprintzen-Goldberg Syndrome FBN1 -related Marfan syndrome ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with ... html:p >Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ...
  3. FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... that of the general population. Diagnosis/testing. The diagnosis of Marfan syndrome is established in a proband (by definition a ... Therapy is generally initiated at the time of diagnosis with Marfan syndrome at any age or upon appreciation of progressive ...
  4. Marfan Syndrome 
    https://medlineplus.gov/marfansyndrome.html
    ... syndrome is a disorder that affects connective tissue. Marfan syndrome can be mild to severe. Read about symptoms and outlook. ... problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often ...
  5. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... in the majority of individuals with a clinical diagnosis of Marfan syndrome or Loeys-Dietz syndrome. However, a genetic cause ...
  6. xmlmplus_topics_2025-04-05.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-05.xml
    ... the fibrillin gene causes Marfan syndrome. </p> <p>Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often ...
  7. Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1386
    ... condition discussed in this GeneReview . Since the differential diagnosis of CCA includes Marfan syndrome and Loeys-Dietz syndrome , clinicians requesting a panel ...
  8. Shprintzen-Goldberg Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1277
    ... distinct from SGS [ Zhu et al 2013 ]. Differential Diagnosis Loeys-Dietz syndrome (LDS) and Marfan syndrome (MFS). The phenotype of Shprintzen-Goldberg syndrome ( ...
  9. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1524
    ... excavatum) that may give the clinical impression of Marfan syndrome, but without joint hypermobility Vascular abnormalities characterized by thromboembolism Developmental delay/intellectual disability Establishing the Diagnosis The diagnosis of classic homocystinuria is established in ...
  10. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... V, Yllana F, De León-Luis J. Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. J Matern Fetal ...
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