Mutations in Genes Associated With Pentalogy of Cantrell

Date de début de l'étude : 15 septembre 2004

* INCLUSION CRITERIA: i. Index Cases 1. Those patients who have a diagnosis of POC or other related syndromes (as defined under Study Design) confirmed by telephone discussion between the investigators and the patient s physician. 2. Outside Institutions- All ages will be included 3. At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older. ii. Relatives of Index Cases 1. We may obtain samples from family members and/or relatives of those individuals who have a diagnosis of POC or other related syndrome confirmed by telephone discussion between the investigators and the referring physician with knowledge of the index case. 2. Outside Institutions - All ages will be included. At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older iii. Fetal tissue: 1. We may obtain samples from patients with a fetal diagnosis of POC or other related syndrome with diagnosis confirmed by telephone discussion between the investigators and the referring physician. 2. Research use of the fetal tissue in accordance to NIH Division of Intramural Research (DIR) Program fetal tissue policy guidelines: 1. No profits will be involved; 2. NIH researchers will have no involvement in the termination of pregnancy, and 3. The tissue must be obtained in accordance with Federal, state, and local law including those that govern basic research using human fetal tissue and research involving the transplantation of fetal tissue. EXCLUSION CRITERIA: Subjects seen at the Clinical Center - Those subjects that are less than or equal to 2 years of age and older.