This study offers evaluation and treatment of patients with a suspected connective tissue
disorder. The protocol is not designed to test new treatments; rather, patients receive
standard care. The study is designed to: 1) allow NICHD's staff to learn more about
connective tissue disorders, 2) train physicians in the evaluation and treatment of these
disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols
for connective tissue disorders. (Participants in this protocol will not be required to join
another study; the decision will be voluntary.)
Patients of all ages with a suspected connective tissue disorder and their unaffected family
members may be eligible for this study.
Participants undergo diagnostic procedures that may include a medical history, physical
examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized
tests, when needed. Additional tests may include:
- Blood test for DNA genetic analysis
- Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of
skin selected for the biopsy is numbed and a small circle of skin, usually from the
upper arm, is removed with a surgical cookie cutter-like instrument.
- Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves
to show structural and chemical changes in tissues. The patient lies on a table that
slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle
loud knocking and thumping sounds that occur with electrical switching of the magnetic
- Computed tomography (CT) scans: This test allows the doctor to view the organs inside
the body in small sections. The patient lies in a doughnut-like machine. Scanning can be
done from different angles, allowing a three dimensional picture of the part of the body
being studied. It may be done with or without injection of a contrast material.
- Referral to appropriate sub-specialists when potential complications are found.
This protocol allows for the screening and diagnosis of a broad array of patients with
disorders of bone and connective tissue, and in so doing to expand our knowledge about these
disorders and provide access to patients of interest for research, teaching, and clinical
experience. This protocol also serves as a basis for permitting collaborations with other
investigators regarding rare, illustrative, or poorly defined human diseases. Many patients
seen under this protocol will go on to enroll in a specific disease-related protocol
- INCLUSION CRITERIA:
Patients with a suspected connective tissue disorder and their unaffected family members
will be eligible for inclusion in this protocol.
Patients with a clinically severe bone dysplasia, who lack a specific diagnosis because a
collagen mutation was undetectable through standard collagen testing, or families that have
experienced unexplained fetal or infantile deaths attributed to type II OI, and/or
consanguinity, will be admitted under this protocol for further clinical evaluation and
They will be admitted as inpatients or outpatients at the discretion of the Principal
Investigator, based upon research interests and expertise. Patients under one month of age
will be admitted only if they are in good health and require admission to the Clinical
Center for confirmation of a presumptive diagnosis based upon family history.
There are only three non-profit institutions that provide testing for recessive OI, our lab
the Section on Heritable Disorders of Bone and Extracellular Matrix at the NICHD, the
Genetics department lab at Baylor College, and the Pathology Department at Washington
University in Seattle. Additionally, tissue specimens donated by volunteers for the purpose
of serving as normal control samples will also fall under this protocol. This will enhance
the ability of confirming a diagnosis of an affected proband.