| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: Marfan's Syndrome |
| (Baseline) |
| Inheritance |
| Family history of Marfan Syndrome |
No Data |
| If yes, give relationship of affected family members |
No Data |
| Growth |
| Length at birth in cm |
No Data |
| Adult height in cm |
No Data |
| Disproportionate tall stature |
No Data |
| Arm span to height ratio (give ratio) |
No Data |
| Puberty-associated peak in growth velocity |
No Data |
| Head and Neck |
| Dolichocephaly |
No Data |
| Long, narrow face |
No Data |
| Malar hypoplasia |
No Data |
| Micrognathia |
No Data |
| Retrognathia |
No Data |
| Enophthalmos |
No Data |
| Ectopia lentis |
No Data |
| If yes, type: |
No Data |
| Myopia |
No Data |
| If yes, type |
No Data |
| Increased axial globe length |
No Data |
| Corneal flatness |
No Data |
| Retinal detachment |
No Data |
| Iris hypoplasia |
No Data |
| Early glaucoma |
No Data |
| Early cataracts |
No Data |
| Down-slanting palpebral fissures |
No Data |
| High-arched palate |
No Data |
| Narrow palate |
No Data |
| Dental Crowding (malocclusion) |
No Data |
| Cardiovascular |
| Aortic regurgitation |
No Data |
| Mitral regurgitation |
No Data |
| Mitral valve prolapse |
No Data |
| Congestive heart failure |
No Data |
| Tricuspid valve prolapse |
No Data |
| Premature calcification of mitral annulus |
No Data |
| Aortic root dilatation (ascending aorta) |
No Data |
| Aortic dissection (ascending aorta) |
No Data |
| Ascending aortic aneurysm |
No Data |
| If yes, give age at diagnosis (yrs) |
No Data |
| Dilatation or dissection of the descending or abdominal aorta before age 50 |
No Data |
| Pulmonary artery dilatation |
No Data |
| Aortic root replacement |
No Data |
| If yes, give age at time of replacement (yrs) |
No Data |
| Atrial septal defect |
No Data |
| Respiratory |
| Emphysema in most severe presentation |
No Data |
| Pneumothorax |
No Data |
| Pulmonary blebs |
No Data |
| Chest |
| Pectus excavatum |
No Data |
| If yes, type: |
No Data |
| Pectus carinatum |
No Data |
| If yes, type: |
No Data |
| Thoracic asymmetry |
No Data |
| Abdomen |
| Hernia |
No Data |
| If yes, give type(s): |
No Data |
| Skeletal |
| Premature arthritis |
No Data |
| Scoliosis |
No Data |
| If yes, type: |
No Data |
| Kyphoscoliosis |
No Data |
| Thoracic lordosis |
No Data |
| Spondylolisthesis |
No Data |
| Lumbosacral dural ectasia |
No Data |
| Protrusio acetabulae |
No Data |
| Long bone overgrowth (dolichostenomelia) |
No Data |
| Joint laxity (hypermobility) |
No Data |
| If yes, list affected joints |
No Data |
| Limited elbow extension |
No Data |
| Joint contractures |
No Data |
| Genu recurvatum |
No Data |
| Arachnodactyly |
No Data |
| Pes planus |
No Data |
| Long, narrow feet |
No Data |
| Pes cavus |
No Data |
| Hammer toes |
No Data |
| Medial rotation of the medial malleolus |
No Data |
| Muscle |
| Decreased muscle mass |
No Data |
| Skin, Nails, Hair |
| Striae distensae |
No Data |
| Decreased subcutaneous fat |
No Data |
| Central Nervous System |
| Dural ectasia |
No Data |
| major CNS involvement |
No Data |
| Laboratory Abnormalities |
| Decreased fibrillin-1 immunostaining in the dermis |
No Data |
| Molecular Basis |
| Mutation in FBN1 gene |
No Data |
| If yes, give mutation |
No Data |
| Remarks |
Clinically affected; as a neonate she had striking arachnodactyly and pectus excavatum; mild contractures of elbows and knees; long face with deep-set eyes; bilateral iridodonesis; high-grade myopia; bilateral lens dislocation at age three years; severe progressive thoracolumbar scoliosis (>80 degrees) requiring spinal fusion; episodes of supraventricular tachycardia and cardiac arrhythmia; aortic root 4.5cm in diameter at age six years; mitral regurgitaion and mitral and tricuspid valve prolapse; hypermobile joints; valve-repacement surgery and pectus excavatum repair; underdeveloped musculature and lack of subcutaneous fat; donor subject has a genomic deletion of exons 44, 45 and 46 of the FBN1 gene |