HUM-MOLGEN archive: DIAG: 5 messages, 2 pt requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s), 2 patient requests: 1. Osteopetrosis and Paget's disease of bone--IV 2. Kartagener syndrome--III 3. Beals Syndrome--IV 4. Ocular Complications in Marfan--IV 5. Adrenomyeloneuropathy--III Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ========================= 1. Osteopetrosis and Paget's disease of bone In our Department of Medical Genetics we are trying to localize and identify genes involved in different types of osteopetrosis and in Paget's disease of bone. Therefore we are looking for families with more than one affected individual for one of both conditions. In case you are in contact with such a family and are willing to add this to our study on a collaborative basis, please contact us: Wim Van Hul vhul@uia.ua.ac.be Department of Medical Genetics University of Antwerp Universiteitsplein 1 2610 Antwerp Belgium Tel: 32 3 820 25 85 FAX: 32 3 820 25 66 =============================================== 2. Kartagener syndrome--pt request PLEASE REPLY DIRECTLY TO HUM-MOLGEN Have this disease and also have 2 other sisters with this same disease. We are on a lung transplant list in Chapel Hill, NC. If there is anyone who may have this disease please let us know. Thank you. =============================================== 3. Beals Syndrome I have seen for genetic counselling a family with Beals Syndrome, congenital contractural arachnodactyly. We have stored DNA from the propositus,his parents, 4 sibs of the mother, and the maternal grandmother. In addition to the propositus,his mother and a maternal aunt showed the same symptoms. I am interested in collaboration to study this family at the molecular level. Sincerely Cesare Danesino Prof. Cesare Danesino, MD Dip. Patologia Umana ed Ereditaria, Universit di Pavia Via Forlanini 14, 27100 Pavia, Italy Phone (+39) 382 507 519 Fax (+39) 382 525 030 E-mail cidi@ipv36.unipv.it ======================================= 4. Ocular Complications in Marfan I am writing on behalf of a friend of mine who has a 5 year old boy with Marfan syndrome and significant ocular complications. The parents would like to know the opinion of ophthalmologists and/or other specialists as to the further surgical management of the boy. A brief medical story follows: in July 1995 the boy underwent scleral buckling, anterior left vitrectomy, peripheral criopexy, ICCE. No complications occurred. Now he's using a soft contact lens +12. The patient has his right lens partially dislocated. Right eye: 1/10 natural. Left eye: 1/20 with contact lens. The parents would like to ask ophthalmologists who have already seen or treated such patients, and specifically they wonder whether or not to operate the right eye, and what consequences might be expected. In fact, as far as I can tell, they were told different opinion by different specialists. The boy is currently being taken care of at the Institute of Opththalmology of the University of Verona School of Medicine, Verona, Italy. The family lives in Verona, Italy. Thank you very much. Alberto E.Turco, M.D. Institute of Genetics The University of Verona School of Medicine University Hospital Polyclinic "B.Roma" 37134 Verona - Italy Tel +39-45-8098 189 Fax +39-45-8098 180 email: aturco@borgoroma.univr.it ======================================== 5. Adrenomyeloneuropathy--Patient Request PLEASE REPLY DIRECTLY TO HUM-MOLGEN Apparent Patient Location: US Am patient who suffers disease, am looking to gather as much info past and present as possible on research that has been done and what is currently being studied.