HUM-MOLGEN archive: DIAG (4 messages)

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 4 professional and 0 patient requests: 1) Unusual twins 2) FG syndrome resources 3) Diagnostic tests for malignant hyperthermia 4) Isolated anophthalmia REPLIES TO THESE MESSAGES SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Unusual twins Dear Colleagues, We recently had the opportunity to find the following abnormalities in an apparently monochorional diamniotic twin pregnancy of a 25 years old para II gravida III woman with no familial history of disease or malformations or diabetes. Twin A: Sacral agenesis, sirenomelia ( single median femur, short tibia, absent foot ) omphalocele, left amelia, left lung hypoplasia/ agenesis Twin B: normal The pregnancy is now 19 weeks. The family does not want to do karyotype. This constellation of symptoms remind us of tetrammelia with pulmonary aplasia. Has anyone had experience with such a case? Thanks Annick Rothschild Genetic clinic, Hadassah university hospital Jerusalem 91120 e mail: annick@hadassah.org.il fax 972-2-6777499 phone 972-2-6777491 ********** 2) FG syndrome resources Detailed information about FG Syndrome is available at the FG Syndrome Homepage at http://www.geocities.com/HotSprings/Spa/3687 Direct questions can be mailed to fgsyndrome@geocities.com Also, requests for registration for the conference about FG Syndrome in Salt Lake City, Utah in June of 1998 should be directed to the FG Syndrome Family Alliance at the same address. If you know of a child with FG Syndrome, please contact us as soon as possible, as we are cooperating with Dr. John Opitz and Dr. Anita Rauch on the creation of an international registry for the syndrome. Detailed medical history forms for this registry are available from our organization. Thank you! S. Gelser FG Syndrome Family Alliance ********** 3) Diagnostic tests for malignant hyperthermia We have a medical student who was operated for breast fibroadenoma in 1994. After such a long time, she happens to read her operation registers and she notice that she was was suspected to have malignant hyperthermia and some laboratory analysis such as serum phosphokinases and potassium levels should be performed to confirm the diagnosis. Since then, no laboratory analysis has been done and no one remembers the situation exactly after this time period. We want to learn if there are any diagnostic criteria developed for malignant hyperthermia and if there is any laboratory that performs these analyses. Looking forward to hearing and thank you in advance. Halil Gurhan Karabulut, MD Ankara University School of Medicine Department of Medical Biology Sihhiye, 06100 Ankara-Turkey Tel: +90 312 310 30 10 ext.327 Fax: +90 312 310 08 05 e-mail: karabul@dialup.ankara.edu.tr ********** 4) Isolated Anophthalmia I am following a 10 mo white female with congenital bilateral anophthalmia. She is growing and developing nicely. No other abnormality has been found. We have checked structures of the heart, brain, and kidneys. Her endocrine system checks-out fine. The chromosomes are 46,XX. This condition is rare. I have not heard of any research on this condition. The parents wonder if their situation is recessive. They are willing to send blood for DNA. Is there any one interested in doing genetic studies on this family? Anthony Perszyk MD Nemours Children's Clinic Jacksonville, Florida USA ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"