Genetic Determinations of Familial Chest Wall Abnormalities

Study ID
STU 062012-001

Cancer Related

Healthy Volunteers

Study Sites

Rachel Renkes

Principal Investigator
Robert Minkes


This project will study the genetics of chest wall abnormalities.
Patients will be seen in the Children's Medical Center and its affiliated outpatient clinics by one of the investigators regarding their chest wall abnormality. a complete history and physical exam will be performed. The anterior chest wall of each participant will be examined for a sternum deformity. Documentation of the following may include: 1) shape of the sternal deformity, either saucer shaped, cup-shaped, or a measurement of the amount of protrusion or depression, 2) symmetry of the thoracic cage, 3) presence or absence of sternal torsion, 4) length of the depression or protrusion in three dimensions, 5) degree of depression by measurement of the hollow index (the ratio between the amount of water contained in the chest depression and the body surface area), and 6) photography of the anterior chest wall. The height and weight of every patient will be measured.
Some of the affected individuals will have extensive medical evaluation for their chest wall deformity including measures of pulmonary function, respiratory mechanics, and exercise capacity, radiographic evaluation of the chest wall deformity, surgical approach and outcome. all of these evaluations will be done as part of standard medical care and will not be influenced by the study.
Subjects for this study will be identified from those individuals being medically evaluated for a chest wall abnormality. Parents of all subjects will be invited to participate as well. informed consent will be obtained from all study participants before any study related procedures are performed. each subject and parent will be asked to complete a Chest Wall Questionnaire. This questionnaire will ask for the name, date of birth, ethnicity, race, medical and family history of the subject. a blood sample will be collected for every individual. unique identifiers will be assigned for each subject. The research coordinator of the study will keep the information regarding the link between the name and identifier for each subject. Participants will not be able to be identified from only the unique study identifier. approximately 20mL (approximately 4 teaspoons) of blood will be collected by vein. a maximum of 10 ml (2 teaspoons) for children 16 x 40 lbs. in weight, 20 ml (4 teaspoons) for children 41 lbs. and up. Blood will be collected in both eDTa purple-top vacutainer tubes for the isolation of the genomic Dna as well as in acid-citrate-dextrose yellow-top vacutainer tubes for the isolation of lymphocytes. Samples of blood will be labeled with the unique identifier and will be shared with Drs. Hobbs and Garcia, for the isolation and storage of genomic Dna. These samples will be kept indefinitely for the study of the genetics of chest wall abnormalities. information that will be shared with Drs. Hobbs and Garcia will include age, ethnicity, gender, race, medical and family history.
Should the answers from Chest Wall Questionnaire identify other family members with similar characteristics, we will ask the participant to contact affected family members to tell them about our research study and ask if they are interested in participating. it will be communicated that the family member will need to contact us if they are interested in enrollment in this study. Blood samples will be collected, labeled with a unique identifier and will be used as described above. a physical exam as and medical record review as described above can also be performed. information regarding the familial relationship between individuals will also be shared with Drs. Hobbs and Garcia for the purpose of studying the genetics of pectus.
if available, we will collect any imaging on participants from STu 042013-005, [Quote]Development of a Multi-modality non-Radiologic image Repository and Registry,[Quote] Pi: alex Kane, MD. Participation in STu#042013-005 is not mandatory for participation in this genetics study.

Participant Eligibility

1. Children with chest wall deformity.
2. Any race, gender,age or ethnicity
3. Ability to give informed consent
4. Normal Healthy Volunteers