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Benign breast disorders, such as macromastia, gynecomastia and breast asymmetry are common among adolescents. We would like to increase our understanding of how these disorders affect the moods and behaviors of adolescents. Participants will be given several questionnaires. These surveys take about 15 to 20 minutes to complete. We hope that information from this study will help in the treatment of individuals in the future.
Eligibility: Patients between 9 and 21 who may have a breast disorder may be eligible.
Contact: Michelle Webb at 857-218-4662 or michelle.webb@childrens.harvard.edu
Apert syndrome is one of the disorders comprising the FGFR-related craniosynostosis spectrum. We would like to examine the linkage between phenotype, genotype, cognitive and behavior functions seen in this syndrome. The goal of this research study is to find out how genetic mutations causing Apert syndrome affect neurocongitive function.
Eligibility: Children and adults age 7 and older with a clinical diagnosis of Apert syndrome, or who might think that they have Apert syndrome, may be eligible.
Contact: Kathleen Busa at 857-218-4876 or kathleen.busa@childrens.harvard.edu
This study will explore whether danazol, an androgen, is a safe treatment for Fanconi anemia (FA). Danazol may have fewer masculinizing side effects than other androgens. Danazol is approved for other diseases, but has not been studied in patients with FA. In addition to evaluating safety, we will investigate the optimal dose of danazol, whether hemoglobin and platelet levels rise in patients and the gene expression pattern of bone marrow cells in response to danazol.
Eligibility: Patients with FA who are at least 3 years of age or ≥14 kg body weight, with at least one of the following: a low level of white blood cells, platelets or hemoglobin, may be eligible.
Contact: Colin Sieff, MB, BCh, at 617-919-4241 or colin.sieff@childrens.harvard.edu
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