HUM-MOLGEN archive: DIAG: 6 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 6 professional requests: 1) "Moderate mental delay, deafness and branchial clefts" 2) 3C syndrome 3) LVOTO Defect 4) Rothmund-Thomson syndrome 5) Erythrophagocytic lymphohistiocytosis, familial 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) "Moderate mental delay, deafness and branchial clefts" I'm pediatritian working in a portuguese hospital. In my general pediatric consultation we have a boy suffering from moderate mental delay, deafness and branchial clefts. We think he can be considered number 3133 in POSSUM classification(Branchio-oto-renal) and we had found in his family similar cases until 4th generation. Is it possible to know if there are any genetic and molecular studies in this particular situation? Thank you very much for your help Sincerely Maria Cristina Morais mariacmorais@HOTMAIL.COM ********** 2) 3C syndrome We have a patient who has tentatively been diagnosed with 3C syndrome, but who displays some puzzling features which have not previously been described. We wondered if anyone has had any similar experience. The patient is a boy now aged 5 years. He was born at 35 weeks gestation with the pregnancy being complicated by polyhydramnios. His birth weight was 3300 gm. He had a large head (38.5 cm). He was hypotonic, with bilateral clubfeet, a large cleft palate and a small omphalocele. There was mild penile chordee and hypospadias. There is a large perimembranous VSD with mild pulmonary hypertension. A gastrostomy was required because of feeding difficulties.The childs head continued to grow, the lateral ventricles were mildly increased in size. A VP shunt was placed for suspected hydrocephalus at age 4 months. Securing and airway during anesthetic proved to be very difficult and precarious due to the small size of the larynx and tracheomalacia. Currently the childs weight is above the 10th percentile with the height below the 5th percentile. The childs head circumference has risen from +2SD to + 4SD (59.5cm) . There is no evidence of hydrocephalus, but polymicrogyria is present. There is also a retrocerebellar subarachnoid cyst. A recent opthalmic examination revealed significant hyperopia and somewhat tortuous retinal vessels. The child walks independently and has some speech delays. The following investigations are normal: chromosomes, peroxisomal function, CPK, TORCH, ISH for 1q44, 22q11.2 and 17 (Miller-Dieker) deletions, LFT, plasma lactate, urine organic acids and skeletal survey. Initially Walker-Warburg syndrome or Fukyama CMD were suggested, but the consensus opinion is 3C syndrome. One concern at present is the increase in the growth of the childs head with signs of increased intercranial pressure, which does not appear to be a feature of 3C. Does anyone have any experience that they would like to share with us? J.S.Bamforth Associate professor Clinical Genetics Department of Medical Genetics University of Alberta Edmonton, Alberta,T6G 2B7, Canada Tel 403 492 4077 Fax 403 492 6845 jbamfort@GPU.SRV.UALBERTA.CA ********** 3) LVOTO Defects We are seeking multiplex families or affected sibpairs with Left Ventricular Outflow Tract Obstruction (LVOTO)Defects. These are common congenital heart defects that include coarctation of the aorta (CoA), aortic valve stenosis (AS), hypoplastic left heart syndrome (HLHS), bicuspid aortic valve (BAV), interrupted aortic arch type A (IAAA), and mitral valve stenosis (MS). This protocol is IRB approved. For more information contact: John W. Belmont, M.D.,Ph.D. Associate Professor Dept. Molecular and Human Genetics Baylor College of Medicine Houston, TX 77030 713.798.4634 fax 713.798.8704 jbelmont@bcm.tmc.edu ********** 4) Rothmund-Thomson syndrome We are carrying out studies to map the Rothmund-Thomson syndrome gene. Some earlier work carried out on our patients have been published (Miozzo et al. Int J Cancer 1998. 77 : 504-510. ) We are keen to know whether you have any families with this condition. Sincerely, Dr. Alan Khoo Division of Molecular Pathology Institute for Medical Research Jalan Pahang 50588 Kuala Lumpur, Malaysia Fax: 60-3-2934114 E-mail: alankhoo@imr.gov.my ********** 5) Erythrophagocytic lymphohistiocytosis, familial I am caring for two siblings born to consanguineous parents with erythrophagocytic lymhohistiocytosis. Is there anyone interested to analyse this family further. The clinical expression is rather mild. Thank you for your help Elisabeth Steichen, M.D. Department of Pediatrics, University of Innsbruck Anichstr. 35, A-6020 Innsbruck FAX: 0043-512-3484 E-mail: Elisabeth.Steichen@uibk.ac.at. A. Univ. Prof. Elisabeth Steichen Department of Pediatrics Anichstr. 35, A-6020 Innsbruck, Austria Phone: 0043-512-504-3600 FAX: 00043-512-504-3484 E- mail: Elisabeth.Steichen@uibk.ac.at ************** 6) Infantile Convulsions I am a clinical geneticist in Canada. 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, FRCPC lvelsher@IDIRECT.COM ************************************************************************ 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"