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100 results

  1. Arterial Tortuosity Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK253404
    ... syndrome 4 XL Clinical features significantly overlap w/Marfan syndrome & LDS: early-onset aortic root dilatation & dissection, widely ... AT seen in persons w/ATS. 10 FBN1 Marfan syndrome AD Aortic root aneurysm; long bone overgrowth; scoliosis; ...
  2. Vascular Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1494
    ... scars Significant large-joint hypermobility FBN1 FBN1 -related Marfan syndrome AD Consider Marfan syndrome if presenting vascular complication is aortic aneurysm or ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/marfan-syndrome</url><title >Marfan syndrome</title><other_names ><other_name >MFS</other_name>< ...
  4. Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1279
    ... loss, vitreoretinal abnormalities, & cleft palate. FBN1 FBN1 -related Marfan syndrome AD Skeletal, ocular, cardiovascular, pulmonary, & skin/integument manifestations ...
  5. Musculocontractural Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK614472
    ... disorders (e.g., Loeys-Dietz syndrome, early-onset Marfan syndrome, spondylodysplastic EDS, kyphoscoliosis EDS [ Minatogawa et al 2022b ], ... connective tissue disorders FBN1 Early-onset FBN1 -related Marfan syndrome AD Craniofacial features Slender fingers Progressive cardiovascular lesions ...
  6. ADAMTSL4-Related Eye Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84111
    ... 1 AD May incl the systemic features of Marfan syndrome Homocystinuria caused by cystathionine beta-synthase deficiency CBS ... 129600 ) be accompanied by the systemic features of Marfan syndrome . 2. Pathogenic variants in ADAMTS10 are known to ...
  7. Geleophysic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11168
    ... in own window Gene Phenotype FBN1 FBN1 -related Marfan syndrome Marfan lipodystrophy syndrome (OMIM 616914 ) Isolated ectopia lentis ( ... RD, Basel D. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz ...
  8. Connective Tissue Disorders | MedlinePlus 
    https://medlineplus.gov/connectivetissuedisorders.html
    ... types: Genetic disorders, such as Ehlers-Danlos syndrome , Marfan syndrome , and osteogenesis imperfecta Autoimmune disorders, such as lupus ... Health Topics Cartilage Disorders Ehlers-Danlos Syndrome Lupus Marfan Syndrome Osteogenesis Imperfecta Scleroderma Soft Tissue Sarcoma National Institutes ...
  9. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... tumor, nephropathy, glomerulopathy, disorders of sexual development FBN1 Marfan syndrome AD Rare Musculoskeletal, cardiac, & ocular defects; diaphragmatic eventration & ...
  10. NFIX-Related Malan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK605494
    ... MALNS. (Note: With the exception of FBN1 -related Marfan syndrome , all the disorders in Table 3 are characterized ... more frequently than in MALNS. FBN1 FBN1 -related Marfan syndrome AD Marfanoid habitus, pectus excavatum/carinatum, kyphoscoliosis, arachnodactyly ...
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