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 8) Name change Helix is now GeneTests 9) Robinow syndrome 10) Congenital nephroticsyndrome 11a) thrombocytopeniaabsent radius syndrome 11b) Osteolysis http://www.hum-molgen.de/mail-archive/1999-Oct/msg00000.html
THROMBOCYTOPENIA-ABSENT RADIUS (TAR) SYNDROME Features Listed For thrombocytopeniaabsent radius (TAR) syndrome.McKusick 274000. Abnormal/absent metatarsals; absent metacarpals; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1664
TAR Syndrome Brief Summary thrombocytopeniaabsent radius (TAR) syndrome is arare genetic disorder that is apparent at birth (congenital). http://personal.nbnet.nb.ca/seepat/brief.htm
Extractions: Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by low levels of platelets in the blood (thrombocytopenia), resulting in potentially severe bleeding episodes (hemorrhaging) primarily during infancy. Other characteristic findings include absence (aplasia) of the bone on the thumb side of the forearms (radii) and underdevelopment (hypoplasia) or absence of the bone on the "pinky" side of the forearms (ulnae). Other abnormalities may also be present, such as structural malformations of the heart (congenital heart defects), kidney (renal) defects, and/or mental retardation that may be secondary to bleeding episodes in the skull (intracranial hemorrhages) during infancy. TAR syndrome is inherited as an autosomal recessive trait. Tar Syndrome is also known as: - Radial Aplasia-Amegakaryocytic Thrombocytopenia
Canadian Directory Of Genetic Support Groups Index by support group. Canadian Directory of Genetic Support Groups.thrombocytopenia absent radius TAR syndrome Association. 212 http://www.lhsc.on.ca/programs/medgenet/tarsa.htm
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.
Extractions: 1. Ellis Van Creveld: recessive inherited, prevalent in Amish community in Pennsylvania, variable shortening more so in forearm and lower legs (mesomelic), hypoplastic tibia, cardiac anomalies (ASD), post axial polydactyly 2. Iniencephaly: defect in the occiput resulting in exposure of the brain, combined with dysraphism of the cervical spine, results in fusion of the occiput to the cervical spine, and retroflexion of the head with an exaggerated spinal lordosis, associated with encephalocele, spinal bifida. 3. Jeune syndrome (asphyxiating thoracic dystrophy): short ribbed limb reduction syndrome, inherited as autosomal recessive, severe rib shortening, thoracic reduction, renal dysplasia, hypoplastic lungs, post axial polydactyly. Next
Tar Syndrome Tar syndrome,. Print this article, thrombocytopenia and absent radius syndrome.Clinical manifestations reflect the absent radius and the thrombocytopenia. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/TAR SYNDROME.ASP
Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Tar syndrome, thrombocytopenia and absent radius syndrome. Clinical manifestations reflect the absent radius and the thrombocytopenia. Radiologically, there is an absent radius which may be associated with other upper limb deformities.
ADC -- 88 (4): 298 Archivist. thrombocytopeniaabsent radius syndrome. The thrombocytopenia-absentradius (TAR) syndrome is characterised by bilateral http://adc.bmjjournals.com/cgi/content/full/88/4/298
Extractions: Download to Citation Manager Archives of Disease in Childhood The thrombocytopenia-absent radius (TAR) syndrome is characterised by bilateral absence of the radius with both thumbs present (absent thumbs suggests other syndromes) and thrombocytopenia which may be transient and tends to remit in later childhood but is usually symptomatic in early infancy (90% within the first 4 months). The main conditions which might be mistaken for TAR syndrome are Holt-Oram syndrome, Roberts syndrome, Fanconi anaemia, thalidomide embryopathy, and Rapadilino syndrome. TAR syndrome was first described by Shaw and Oliver in 1959. A series of 34 patients has been reported from South West England (Greenhalgh KL and colleagues. J Med Genet The 34 patients were recruited through Clinical Genetics Services and all had bilateral absence of the radius with thumbs and x /L). Platelet
Re [MOL] Elevated Platelet Count/REPLY HIGH PLATELET COUNT [03134 Congenital causes of thrombocytopenia include WiskottAldrich syndrome, May-Hegglinanomaly, thrombocytopenia with absent radius, and Bernard-Soulier syndrome. http://www.meds.com/archive/mol-cancer/2000/06/msg03134.html
Extractions: Date Prev Date Next Thread Prev Thread Next ... Thread Index http://www.meds.com/con_faq.html References [MOL] Elevated Platelet count From: Prev by Date: [MOL] Need Money?.?......... Next by Date: [MOL] Hello Everyone Prev by thread: [MOL] Elevated Platelet count Next by thread: [MOL] TO All our friends... Index(es): Date Thread
Evaluation And Management Of Idiopathic Thrombocytopenia an illappearing child; In the young child Congenital amegakaryocyticthrombocytopenia or thrombocytopenia-absent radius syndrome; http://www.medscape.com/viewarticle/461994_print
Hematology General Information Fanconi s syndrome); thrombocytopeniaabsent radius syndrome(TAR syndrome);Wiskott-Aldrich syndrome; May-Hegglin anomaly; Alport syndrome; http://pathcuric1.swmed.edu/Resident_Docs/Resident Call Manual/HEME/HEMETOC.HTML
Extractions: There is always a hematology supervisor on duty in the lab. The path resident is encouraged to discuss any problems with the supervisor first. If additional information or consultation is needed, the resident may call the Hematology Chief Tech, Sue Bell, or Dr. Kroft. Please notify the day shift supervisor the following day if any tests are approved or authorized to be done by outside laboratories. Hematology Lab: 214-590-8195, 214-590-8196 Dr. Steve Kroft: Home 972-381-1317, Beeper 214-825-7826 See Microbiology section Factor VIII assays are not done on an emergency basis at night, holidays, or on weekends without the approval of the path resident. This is because the assay is time consuming, and the hematology lab is not fully staffed during these hours. The path resident should discuss the situation with the clinician who requested the assay. It is the resident's responsibility to decide whether or not the request is a valid one. Other lab results such as protime and PTT may be helpful in evaluating the situation. Information from the clinician, such as past medical history (e.g., is the patient a known hemophiliac?, is emergency surgery required?, etc.) may also be important in reaching the appropriate decision. The path resident may wish to request a hematology/oncology consult.
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Hematology Last Updated: September 15, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: BSS, hereditary platelet disorder, bleeding disorder, coagulation disorder, thrombocytopenia, giant platelets, bleeding tendency AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: John D Geil, MD , Associate Professor, Department of Pediatrics, University of Kentucky Children's Hospital John D Geil, MD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Pediatric Hematology/Oncology Editor(s): Gary R Jones, MD , Associate Medical Director, Clinical Development, Berlex Laboratories; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Gary D Crouch, MD
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TAR Syndrome, Alex's Webpage both arms. The diagnosis was made as TAR syndrome, meaning thrombocytopenia,Absence of radius syndrome . The main characteristics http://personal.nbnet.nb.ca/seepat/
Extractions: skip to: page content links on this page site navigation footer (site information) ... Webcrawler Brief Overview Medical Research / Associations Platelets Other TAR sites ... Pat Ouellette On September 28, 1998 my son Alex was born with thrombocytopenia (low platelet count) and missing radii in both arms. The diagnosis was made as TAR Syndrome, meaning "Thrombocytopenia, Absence of Radius syndrome". Tar Syndrome is a rare genetic disease, when Alex was diagnosed the hospital told us that there were 161 known documented cases in Canada. A Spanish study showed that the estimated frequency of Tar syndrome in their area was .42 per 100,000 live born infants. It is not known if we can assume a similar frequency in Canada and in the United States. The Reason for this web page is to help anyone confronted with TAR's Syndrome and at the same time find support for my own son.
Extractions: Sponsored Links What are you looking for? the entire directory only in Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome Popular Categories Popular Searches Recent Categories Recent Searches ... Genetic Disorders : Thrombocytopenia Absent Radius Syndrome Top Web Sites: NORD: Thrombocytopenia Absent Radius Syndrome - Offers the synonyms, a general discussion and further resources.
ADC -- Abstracts: Whitfield And Barr 51 (5): 337 Ancliff, HG Brunner, CC VerschuurenBemelmans, E Vernon, KW Brown, and RA Newbury-EcobThrombocytopenia-absent radius syndrome a clinical genetic study J. Med http://adc.bmjjournals.com/cgi/content/abstract/archdischild;51/5/337
Extractions: A girl with the syndrome of thrombocytopenia with absent radius had severe diarrhoea and dehydration relieved by withdrawal of cows' milk and aggravated by its reintroduction on three occasions. Deterioration in gastrointestinal symptoms was associated with haematological relapse with thrombocytopenia, leucocytosis, anaemia, and eosinophilia. There appeared to be a correlation between milk exposure and the haematological and gastrointestinal disturbances. Supporting evidence from published reports for such a correlation is reviewed. Cows' milk protein intolerance may be a factor in precipitating haematological relapse in susceptible infants with radius aplasia. Early withdrawal of cow's milk protein should be tried in
Indian Pediatrics - Editorial left radius and hypoplastic right radius. hypoplastic kidney and absent testis onthe anomalies including phocomelia, thrombocytopenia, occipital encephalocele http://www.indianpediatrics.net/oct2002/oct-967-969.htm
