Clinical trial: Studies of Heritable Disorders of Connective Tissue (NCT00270686)

Eligibility criteria:
-  INCLUSION CRITERIA:

          -  Individuals and their family members will be offered enrollment if they have an
             established or suspected diagnosis of Marfan, Stickler, or Ehlers-Danlos syndrome, or
             Overlap connective tissue disorder.

          -  Determination of eligibility will be made by review of prior records.

          -  In some cases, a screening evaluation to establish the diagnosis may be performed
             subjects may be excluded from further participation if the diagnosis is ruled out.
             Cytogenetic analysis may be necessary to rule out a chromosomal abnormality that has
             overlapping features with HDCT.

          -  Clinical inclusion criteria require: personal or family history of one or more of the
             following features in a pattern suggestive of a heritable connective tissue disorder:
             Marfanoid body habitus, aortic dilatation and/or dissection, ectopia lentis, detached
             retina, vitreous degeneration and/or early onset high myopia, posterior cleft palate,
             joint laxity and/or dislocation, premature osteoarthritis, skin fragility, striae,
             easy bruising and/or hyperextensibile skin, pectus excavatum or carinatum, scoliosis,
             spondylolisthesis and/or dural ectasia, Chiari I Malformation, high frequency
             sensorineural hearing loss, fibromuscular dysplasia of arteries, aneurysms.

        EXCLUSION CRITERIA:

          -  The only exclusion criterion is inability to provide informed consent, or the absence
             of a guardian who is authorized to provide informed consent in the case of minor
             subjects.

          -  There will be no exclusion based upon age, gender, ethnicity, socioeconomic status, or
             any other factor except ability to provide informed consent.

          -  Pregnant and nursing women may be limited in their participation in some aspects of
             the study (e.g. ionizing radiation exposure or MRI) during the time that they are
             pregnant or nursing.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 2 Years old.


Patient description (medical language): A 20-year-old man comes to the clinic for his routine checkup. The patient wears glasses for myopia and takes no medications.  Vital signs are normal.  On physical examination, the patient is tall with long upper extremities and fingers.  The face appears narrow with down-slanted palpebral fissures, flattened malar bones, and a small jaw.  The lungs are clear on auscultation.  The abdomen is soft with no organomegaly. The patient is diagnosed with Marfan syndrome, and he is cooperative with his medical appointments. He is working as driver.

Patient description (patient's own words): I'm a 20-year-old guy, working as a driver and I went to the clinic for my routine checkup. I have myopia, so I wear glasses and I don't take any other medications. My vitals were normal. I also did a physical exam, and I was told that I have long legs, arms, and fingers. They also told me that my face is quite narrow, with down-slanted eyes and a small jaw. My lungs were fine and my tummy too. I have been diagnosed with Marfan syndrome and I haven't been skipping any medical appointments since.

Does the patient match the trial criteria? 1