Extractions: Administrator posted 10-26-1999 08:43 AM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?274000 We have seen a family in which inheritance appears to be autosomal dominant with reduced penetrance/variable expression. There are two clearly affected cousins, the mother of one has short-appearing forearms, as does the common grandmother. The father of the other cousin has no obvious phenotypic manifestations. Contact:
HUM-MOLGEN Archive: DIAG: 11 Messages 11a) thrombocytopeniaabsent radius syndrome 11b) Osteolysis of the carpal 1) thrombocytopenia-absent radius syndrome We have seen a family in which http://hum-molgen.org/mail-archive/1999-Oct/msg00000.html
Entrez PubMed The thrombocytopeniaabsent radius (TAR) syndrome is a congenital malformationsyndrome characterise http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
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Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Greenhalgh, K L Articles by Newbury-Ecob, R A Related Collections Genetics Journal of Medical Genetics
Thrombocytopenia - Absent Radius Syndrome thrombocytopeniaabsent radius syndrome a clinical genetic study thrombocytopenia-absent radius syndrome a clinical genetic study http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=458
Developmental And Genetic Diseases TAPVR ( Total anomalous pulmonary venous return 24 ) TAR syndrome (thrombocytopenia absent radius syndrome 5 ) TAS ( Pentalogy of Cantrell 11 http://www.gfmer.ch/genetic_diseases_v2/index.php?disinit=T
Birth Disorder Information Directory - T thrombocytopenia. absent radius (TAR) syndrome. List of Sites. -Robin Sequence.See Braddock Carey syndrome. Thyrotoxic Periodic Paralysis http://www.bdid.com/defectt.htm
Extractions: HOME Takatsuki('s) Syndrome Tamari Goodman Syndrome (Congenital Heart Disease Radio Ulnar Synostos Mental Retardation) Tangier Disease Tardive Tibial Muscular Dystrophy Tarsal-Carpal Coalition Syndrome (Synostosis of Talus and Calcaneus with Short Stature) Tauri Disease (Glycogen Storage Disease, Type VII) Tay Sachs Disease Taybi Linder Syndrome (Cephaloskeletal Dysplasia) Teebi Syndrome (Brachycephalofrontonasal Dysplasia; Craniofrontonasal Syndrome, Teebi Type) Teebi Naguib Alawadi Syndrome Telfer Sugar Jaeger Syndrome (Piebald Trait with Neurologic Defects) Temporal-Central Focal Epilepsy See Epilepsy, Centralopathic/Centrotemporal
Review Of TAR By Dr. Judith G. Hall thrombocytopenia and absent radius (TAR) syndrome. by Judith G. Hall, OC, MD.thrombocytopenia and absent radius is certainly a big mouthful but in fact it http://www.ivh.se/TAR/info/review.htm
Extractions: Professor Hall, OC, MD, is a pioneer in the field of research on the TAR syndrome. Her 1969 review in Medicine both defined the syndrome and named it Thrombocytopenia and Absent Radius (TAR). We are proud to present the following review written by professor Hall specially for this website and in a wording accessible to all. by Judith G. Hall, OC, MD Thrombocytopenia and Absent Radius is certainly a big mouthful but in fact it is simply a descriptive term. Thrombocytopenia means low platelets. The thrombocytes are the platelets and "penia" means "not very much of." There are two bones in the forearm: The radius and the ulna. The radius is the bone that is on the side of the forearm where the thumb is and the ulna is on the side of the arm where the little finger is. In Thrombocytopenia and Absent Radius there are low platelets and absence of the radius on both sides (bilaterally). There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present. Most other limb anomalies that involve the radius also affect the thumb. There are a number of other disorders that involve elements of the blood and abnormal structure of bones of the arm and it is important to realise that TAR is a very specific condition. The features of each particular syndrome have been fairly well defined although there are always new things that are learned (perhaps even your family can contribute to new knowledge).
Canadian Directory Of Genetic Support Groups thrombocytopenia absent radius TAR syndrome Association 212 Sherwood Dr. RD 1Egg Harbor Twp, New Jersy, USA, 08234 Tel 609.927.0418 Fax 609.653.8639 http://www.lhsc.on.ca/programs/medgenet/tarsa.htm
Extractions: The Board classifies its publications into different types of document. This is a Review of knowledge . This means that the report is based on science and/or tried and tested experience. Reviews of knowledge shall, among other things, support knowledge-based care and treatment, method development and other work for improvement; shall stimulate and facilitate quality assurance and effective use of resources and/or elucidate effects of distribution. The Board is responsible for contents and conclusions. The disease/injury/diagnosis HTML-version: 1.0 English index Search The aphabetical list This is an excerpt from the database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders resulting in extensive disability whick affect no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide information to the public, including patients and their families, as well as to health professionals. TAR is an acronym for Thrombocytopenia and Absent Radius, and TAR syndrome is characterised by a combination of low blood platelet (thrombocyte) count, and absent radius bones in the forearms. Shaw and Oliver were the first to describe the condition in
Extractions: helpful? yes no TAR syndrome: Thrombocytopenia and Absent Radius Thrombocytopenia means low platelets. The thrombocytes are the platelets and 'penia' means 'not very much of.' In T hrombocytopenia and A bsent R adius there are low platelets and absence of the radius on both sides (bilaterally). The radius and the ulna are the two bones in the forearm. The radius is the bone that is on the side of the forearm where the thumb is and the ulna is on the side of the arm where the little finger is. There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present. Most other limb anomalies that involve the radius also affect the thumb. There are a number of other disorders that involve elements of the blood and abnormal structure of bones of the arm and it is important to realise that TAR is a very specific condition. TAR is considered a congenital abnormality since the bone structure is abnormal at birth. TAR has an ongoing problem since during childhood most affected individuals continue to have low platelets. Viral illnesses and other kinds of stress can cause the platelets to become very low and even require platelet transfusions. All individuals with TAR have low platelets but often as they grow older, it becomes less of a problem and affected individuals can outgrow the risk of bleeding related to low platelets. About ninety per cent of individuals with TAR are symptomatic during the first year of life with easy bruising, bleeding from the GI tract or even bleeding into the brain. The level of platelets will fall and rise throughout low platelet episodes. A normal platelet count is greater than two hundred thousand platelets per millilitres squared of blood. Individuals with TAR may have less than ten thousand platelets per millilitres squared when they are having severe episodes.
Clinical Orthopaedics And Related Research - UserLogin Five of the 11 patients with thrombocytopenia and absent radius syndrome studied Moir JS, Scotland T thrombocytopenia, absent radius syndrome and knee http://www.corronline.com/pt/re/corr/fulltext.00003086-200006000-00024.htm
Extractions: The cases of 11 patients with the syndrome of thrombocytopenia and absent radius (TAR syndrome) who presented at two institutions between 1970 and 1996 were reviewed. Knee deformities have been well documented in thrombocytopenia and absent radius syndrome, but an inordinate frequency of other lower extremity problems needing orthopaedic attention was seen. Five of the 11 patients with thrombocytopenia and absent radius syndrome studied had knee deformities, but seven of the 11 had 11 other lower extremity deformities. This article documents all of the lower extremity problems seen in the seven patients with thrombocytopenia and absent radius syndrome with anomalies other than those of the knee.
