HUM-MOLGEN archive: DIAG: 6 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 6 professional requests: 1) Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome 2) Bannayan-Zonana syndrome/ Cowden's disease 3) Beckwith Wiedemann syndrome 4) Dyserythropoietic anemia 5) Skeletal dysplasia 6) Infantile convulsions REPLIES TO PROFESSIONAL REQUESTS 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) Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome I am seraching for Labs performing molecular diagnosis on Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome. This message is especially urgent for AT: the family, with one affected and clinically diagnosed sib, is willing to have another child as soon as possible. Thanks in advance, Eugènia Monrós Secció Genètica Hospital Sant Joan de Déu Av. Sant Joan de Déu nº2 08950 Esplugues, Barcelona, Spain E-mail: emonros@HSJDBCN.ORG Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626 ********** 2) Bannayan-Zonana syndrome/ Cowden's disease We are looking for cell lines developed from intestinal hamartomas of patients with Bannayan-Zonana syndrome (BJS; also known as Ruvalcaba-Riley-Smith syndrome, Bannayan-Ruvalcaba syndrome, or Ruvalcaba-Myhre-Smith syndrome), or of patients with Cowden's disease, or of patients with juvenile polyposis coli. If you have access to these cell lines, please contact us. Sincerely yours, Stephen J. Meltzer, M.D. Professor of Medicine University of Maryland N3W62 22 S. Greene St. Baltimore, MD 21201 410-706-3375 FAX 410-328-6559 email: smeltzer@medicine.ab.umd.edu ********** 3) Beckwith Wiedemann syndrome We are caring for a woman with presumed BWS (Beckwith Wiedemann syndrome). She is now pregnant (24 weeks) and her fetus has a VSD. We will appreciate assistance in molecular work up of this patient. Moshe Frydman MD genetics Institute Ministry of Health Chaim Sheba Medical Center Tel Hashomer, 52621, Israel Phone 972-3-5303952 Fax 972-3-5302914 e-mail: mfrydman@POST.TAU.AC.IL ********** 4) Dyserythropoietic anemia I am writing from South Korea to get recommendations re: genetic counseling about dyserythropoietic anemia. I am a neonatologist and one of our patient with congenital dyserythropoietic anemia died with a month of age due to infection last year. Mother of this infant is trying to get pregnant again and is seeking for a genetic counseling. I would appreciate very much if you could guide me through this. The patient who died had type II CDA. Thank you. Ellen Kim, M.D. Asan Medical Center Seoul, Korea Fax:011-224-6978 Tel:011-224-3382/3386 Email: arkim@www.amc.seoul.kr ********** 5) Skeletal dysplasia I would like some thoughts on the following baby: Delivered at 36 weeks for footling breech. Pregnancy complicated by severe polyhydramnios; family history non-contributory, parents non-consanguineous (Portuguese and English). The facial and general appearance (severe club feet, overlapping fingers, flexed wrists, abnormal palmar creases, cleft palate, severe micrognathia and glossoptosis, flat face and flat nasal bridge, and squarish appearance of the head) suggests campomelic dysplasia. However, on skeletal survey there is no long bone bowing, scapulae are normal size and the is advancement of the bone age (the distal femoral epiphysis is ossified). 12 pairs of ribs. I.e., there are none of the radiologic criteria of CD. There is a severe segmentation defect in the cervical region with kyphoscoliosis at that level. Abdominal U/S and 2dECHO still pending. Currently intubated for upper a/w obstruction. On physical examination this babe looks just like the examples of CD in Gorlin, Cohen and Levine. What am I dealing with?Thank you all for your help. Marg Malgorzata J.M. Nowaczyk, MD, FRCPC, FCCMG Assistant Professor, Pathology and Pediatrics McMaster University, Hamilton, Canada nowaczyk@exchange1.cmh.on.ca Marlene Huggins, MSc Genetic Counsellor Prenatal Diagnosis Programme Hamilton Health Sciences Corporation McMaster Campus, Rm 4D7 1200 Main Street West, Hamilton, ON L8N 3Z5 (905)521-2100, x5429 fax (905)521-4955 hugginsm@exchange1.cmh.on.ca ********** 6) Infantile convulsions I have recently seen a family in which there are three generations with a history of benign infantile convulsions. The convulsions start at about three months of age (NOT NEONATAL), and are both partial and generalized. No underlying etiology has been found. The seizures stop within one to two months, and the mental development is subsequently normal. Is anyone interested in samples from this family. They expressed interest in genetic testing, mostly to prevent a major work up for future children who begin seizures. Thank you for your help. Lea Velsher MD ************************************************************************ 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"