| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
42 YR |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Marfan's Syndrome |
| (Baseline) |
| Inheritance |
| Family history of Marfan Syndrome |
Yes No Unknown |
| Growth |
| Disproportionate tall stature |
Yes No Unknown |
| Puberty-associated peak in growth velocity |
Yes No Unknown |
| Head and Neck |
| Dolichocephaly |
Yes No Unknown |
| Long, narrow face |
Yes No Unknown |
| Malar hypoplasia |
Yes No Unknown |
| Micrognathia |
Yes No Unknown |
| Retrognathia |
Yes No Unknown |
| Enophthalmos |
Yes No Unknown |
| Ectopia lentis |
Yes No Unknown |
| If yes, type: |
Bilateral |
| Myopia |
Yes No Unknown |
| Increased axial globe length |
Yes No Unknown |
| Corneal flatness |
Yes No Unknown |
| Retinal detachment |
Yes No Unknown |
| Iris hypoplasia |
Yes No Unknown |
| Early glaucoma |
Yes No Unknown |
| Early cataracts |
Yes No Unknown |
| Down-slanting palpebral fissures |
Yes No Unknown |
| High-arched palate |
Yes No Unknown |
| Narrow palate |
Yes No Unknown |
| Dental Crowding (malocclusion) |
Yes No Unknown |
| Cardiovascular |
| Aortic regurgitation |
Yes No Unknown |
| Mitral regurgitation |
Yes No Unknown |
| Mitral valve prolapse |
Yes No Unknown |
| Congestive heart failure |
Yes No Unknown |
| Tricuspid valve prolapse |
Yes No Unknown |
| Premature calcification of mitral annulus |
Yes No Unknown |
| Aortic root dilatation (ascending aorta) |
Yes No Unknown |
| Aortic dissection (ascending aorta) |
Yes No Unknown |
| Ascending aortic aneurysm |
Yes No Unknown |
| Dilatation or dissection of the descending or abdominal aorta before age 50 |
Yes No Unknown |
| Pulmonary artery dilatation |
Yes No Unknown |
| Aortic root replacement |
Yes No Unknown |
| If yes, give age at time of replacement (yrs) |
37 |
| Atrial septal defect |
Yes No Unknown |
| Respiratory |
| Emphysema in most severe presentation |
Yes No Unknown |
| Pneumothorax |
Yes No Unknown |
| Pulmonary blebs |
Yes No Unknown |
| Chest |
| Pectus excavatum |
Yes No Unknown |
| Pectus carinatum |
Yes No Unknown |
| If yes, type: |
Surgically Corrected |
| Thoracic asymmetry |
Yes No Unknown |
| Abdomen |
| Hernia |
Yes No Unknown |
| If yes, give type(s): |
Bilateral |
| Skeletal |
| Premature arthritis |
Yes No Unknown |
| Scoliosis |
Yes No Unknown |
| Kyphoscoliosis |
Yes No Unknown |
| Thoracic lordosis |
Yes No Unknown |
| Spondylolisthesis |
Yes No Unknown |
| Lumbosacral dural ectasia |
Yes No Unknown |
| Protrusio acetabulae |
Yes No Unknown |
| Long bone overgrowth (dolichostenomelia) |
Yes No Unknown |
| Joint laxity (hypermobility) |
Yes No Unknown |
| If yes, list affected joints |
SMALL AND LARGE JOINTS |
| Limited elbow extension |
Yes No Unknown |
| Joint contractures |
Yes No Unknown |
| Genu recurvatum |
Yes No Unknown |
| Arachnodactyly |
Yes No Unknown |
| Pes planus |
Yes No Unknown |
| Long, narrow feet |
Yes No Unknown |
| Pes cavus |
Yes No Unknown |
| Hammer toes |
Yes No Unknown |
| Medial rotation of the medial malleolus |
Yes No Unknown |
| Muscle |
| Decreased muscle mass |
Yes No Unknown |
| Skin, Nails, Hair |
| Striae distensae |
Yes No Unknown |
| Decreased subcutaneous fat |
Yes No Unknown |
| Central Nervous System |
| Dural ectasia |
Yes No Unknown |
| major CNS involvement |
Yes No Unknown |
| Laboratory Abnormalities |
| Decreased fibrillin-1 immunostaining in the dermis |
Yes No Unknown |
| Molecular Basis |
| Mutation in FBN1 gene |
Yes No Unknown |
| Remarks |
Clinically affected; dolichostenomelia; severe pectus carinatum requiring surgery; high narrow palate; dental crowding; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 37 years; mitral valve prolapse; bilateral hernia; striae; donor subject has a 1 bp insertion at nucleotide 6185 in exon 50 of the FBN1 gene (6185insA) resulting in a premature stop at codon 2062 [Tyr2062Ter (Y2062X)] |