61. THALIDOMIDE Did Not Cause All Birth Defects TAR syndrome (thrombocytopeniaabsent radius) is an autosomal recessive disorderin which thrombocytopenia tends to improve and may not be evident after the http://www.thalidomide.ca/english/thaldid.htm

TVAC's Position Regarding the Return of Thalidomide Information Directors Links Contacts ... Visualisez ce site en français THALIDOMIDE Did Not Cause All Birth Defects by Randolph Warren, CEO August 16, 1999 With the rehabilitation of thalidomide (new use and licensing) and as a result, the attention given the drug and victims by the media, it becomes important to revisit the past and discuss just what is a thalidomide victim. Identification of people’s disabilities resulting from the drug thalidomide was a tedious, confusing, and inconsistent process. Some countries and drug companies were better than others, but many failed to ensure that every claimant (person coming forward thinking they were a thalidomide victim) actually was. Some mothers truly believed they had exposure to thalidomide during pregnancy they remembered taking a pill or being given something . Families faced with the shock of children being born with limb defects and/or other deformities, compounded with the media frenzy surrounding thalidomide, naturally, made a connection between the defects and the widely available drug. This just wasn’t always true. It is known "that 2 to 3% of all babies born have significant birth defects, and while thalidomide consumption was widespread in 1960 to 1961, some mothers who undoubtedly took the drug when pregnant (though probably outside the sensitive period) gave birth to babies with defects quite unrelated to thalidomide. It is also possible for a baby exposed to thalidomide during the sensitive period to be born with a variety of defects, of which some, but not all, are drug induced."

62. AASE SYNDROME A definition of Aase syndrome,the epidemiology, pathogenesis, clinical features, investigations and Category Health Conditions and Diseases Aase syndrome...... other syndromes Fanconi Anemia; thrombocytopeniaabsent radius (TAR) syndrome.etiology is unknown but is considered to be one of at least 3 disorders where http://www.icondata.com/health/pedbase/files/AASESYND.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 5/05/94 AASE SYNDROME DEFINITION: A disorder characterized by congenital hypoplasic anemia and triphalangeal thumbs. EPIDEMIOLOGY: incidence: rare age of onset: newborn (anemia) risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1. Background one of at least 3 autosomal recessive syndromes associated with hematopoietic and skeletal anomalies other syndromes: Fanconi Anemia Thrombocytopenia-Absent Radius (TAR) Syndrome etiology is unknown but is considered to be one of at least 3 disorders where there is a congenital deficiency in erythroid precursors other congenital single cytopenias: Diamond-Blackfan Syndrome Congenital Dyserythropoietic Anemia CLINICAL FEATURES: 1. Anemia onset in newborn period but tends to improve with age pallor and lethargy 2. Musculoskeletal Manifestations short stature triphalangeal thumbs with mild radial hypoplasia narrow shoulders late closure of fontanelles 3. Others cardiac anomalies - VSD INVESTIGATIONS: 1. Serum

63. IJHBT Home 1). This patient had absent radius, thumb attached This chromosomal instability isabsent in Diamond and Radial aplasia thrombocytopenia syndrome which may http://www.ijhtm.com/Mar2001/indIjhbtMarFanconi.htm

Volume XIX NO I March 2001 Price Rs 150 Case Report Patel A*, Renge R**, Tule V# Abstract Case Report A 4 yr. old male child of non-consanguineous marriage presented with epistaxis and bleeding gums to our hospital. He had history of repeated chest infections and blood transfusions since the second year of life. Physical examination revealed severe pallor. There were no petechiae, lymphadenopathy or hepatospleenomegaly. He had short stature (Ht. 94cm - less than 5th percentile according to NCHS), with upper to lower segment ratio of 1. His weight was 10kg (less than 5th percentile) and head circumference 42cm. He had microcephaly, depressed nasal bridge, micropthalmia, low set hairline and skin pigmentation (Fig 1). He had right upper limb deformity in form of absent radius, thumb attached with soft tissue and hypoplastic forearm. His investigations revealed thrombocytopenia (platelet 30,000) and hypoplastic bone marrow. X-ray (Fig2) of right forearm showed absent radius, thumb deformity (absent first metacarpal), only 2 ossification centers. Discussion References Thomson JS, Thomson MW: Genetics in Medicine, 4th Edition, WB Saunder, Philadelphia 1986: 130.

64. Search 2 Uff THROMBASTHENIA, RDG030, 287.1, thrombocytopeniaabsent radius (TAR) syndrome, RN1690,759.89, Q87.2, *274000. THROMBOTIC MICROANGIOPATHIES, RGG010, 446.6, 446.6, M31.1, http://malattierare.pediatria.unipd.it/cerca_ing/cerca_2_uff.asp?parola=t

65. The 18-23-week Scan - Chapter 9.04 of tetraphocomelia and facial clefting defects or hypoplastic nasal alae), somevarieties of thrombocytopenia with absent radius (TAR syndrome) and Grebe http://www.fetalmedicine.com/18-23scanbook/Chapter9/chap09-04.htm

The 18-23-week scan LIMB DEFICIENCY OR CONGENITAL AMPUTATIONS Limb reduction defects associated with other anomalies include the CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects). This is characterized by strict demarcation of the skin lesions to one side of the mid-line and limb deficiencies, which are unilateral, varying from hypoplasia of phalanges to complete absence of an extremity. The condition is also associated with heart defects and unilateral hydronephrosis or renal agenesis. Return to Contents Page Next...

66. No Fear: Caleb's Story - York Daily Record TAR syndrome (thrombocytopenia absent radius) is a rare genetic disorder, affectingabout four people per one million worldwide since it was originally http://ydr.com/page/caleb/tarsyndrome/

@import url("/stylesheets/ydr2002extended.css"); Browse About us Announcements Calendar of Events Classifieds ... No Fear: Caleb's Story ABOUT TAR SYNDROME TAR Syndrome (thrombocytopenia absent radius) is a rare genetic disorder, affecting about four people per one million worldwide since it was originally described in medical literature in 1951. The syndrome varies widely in its presentation, ranging from mild to severe structural anomalies and other medical problems. Babies with TAR may have a combination of shortened limbs, heart or kidney problems, mental retardation, a decreased production of platelets and bleeding disorders. While some cases are diagnosed prenatally through specialized blood tests or imaging techniques, most cases are diagnosed at birth. Dr. Charles Peterson, director of the blood diseases program at the National Heart, Lung and Blood Institute in Bethesda, Md., said the number of TAR cases does not include babies who die from the syndrome in utero before they are diagnosed. Although progress has been made toward the prenatal identification of babies with TAR, Peterson said, doctors have been unable to isolate the recessive gene that is the cause. “It’s so rare, you don’t get a lot of families (with TAR) you can study,” he said.

67. Qango : Health: Diseases And Conditions: T: Thrombocytopenia Absent Radius (TAR) Options Help. Home Health Diseases and Conditions T ThrombocytopeniaAbsent radius (TAR) syndrome, Suggest a Site. Health, etc. If http://www.qango.com/dir/Health/Diseases_and_Conditions/T/Thrombocytopenia_Absen

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Thrombocytopenia Absent Radius (TAR) Syndrome all of Qango only this category Options Help Home Health ... T > Thrombocytopenia Absent Radius (TAR) Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... T > Thrombocytopenia Absent Radius (TAR) Syndrome Suggest a Site Home Suggest a Site Search ... Login

68. IBMFS - Thrombocytopenia Absent Radii thrombocytopenia absent Radii (TAR). TAR patients are missing one of the two bonesfrom each lower arm. The missing bone is called the radius, and it runs from http://marrowfailure.cancer.gov/TAR.html

What are the IBMFS disorders? Amegakaryocytic Thrombocytopenia Diamond-Blackfan Anemia Dyskeratosis Congenita Fanconi's Anemia ... Shwachman-Diamond Syndrome Thrombocytopenia Absent Radii Other Bone Marrow Failure Syndromes Thrombocytopenia Absent Radii (TAR) TAR patients are missing one of the two bones from each lower arm. The missing bone is called the radius, and it runs from the elbow to the wrist. The thumbs are not missing, as they are in some of the other bone marrow failure disorders (see Fanconi's anemia, Diamond-Blackfan anemia). Bruising is due to decreased production of platelets (the cells which help the blood to clot) by the bone marrow and is usually apparent at birth. The gene for TAR has not been identified. Males and females are affected equally. What are the major findings on physical examination? The radius bone is missing from both lower arms The thumbs are present Patients may have small shoulders Patients may have abnormal knees such as bow legs or knock knees What is the age at diagnosis?

69. Table Of Contents: Pediatrics Diamond syndrome Sickle Cell Anemia Splenomegaly Thalassemia Thalassemia IntermediaThrombocytopeniaabsent radius syndrome Thrombocytosis Thromboembolism http://author.emedicine.com/ped/HEMATOLOGY.htm

Table of Contents: Pediatrics HEMATOLOGY Acanthocytosis Anemia, Acute Anemia, Chronic Anemia, Fanconi ... White Blood Cell Function

70. 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

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2002; 39:967-969 Von Voss-Cherstvoy Syndrome Sanjeev Managoli Pushpa Chaturvedi Krishna Y. Vilhekar Shiv Kumar* From the Departments of Pediatrics and *Pathology, M.G.I.M.S. Sevagram, Maharashtra, India. Correspondence to: Dr. Sanjeev Managoli, Lecturer, Department of Pediatrics, M.G.I.M.S. Sevagram, Maharashtra 442 102, India. E-mail: drsanjeevsm@yahoo.com Manuscript received: March 26, 2002; Initial review completed: April 15, 2002; Accepted: May 10, 2002. Von Voss-Cherstvoy syndrome or DK Phocomelia syndrome is a rare, perinatally lethal, unusual complex of multiple congenital anomalies, characterized by phocomelia especially radial ray defects, hypo- megakaryocytic thrombocytopenia, occipital encephalocoele, and urogenital abnormalities. We report a proposita with these characteristic anomalies and other associations. No case has been reported from India so far, to the best of our knowledge. Case Report A 20-year-old unbooked primigravida mother with severe oligohydramnios, delivered a 30-week male child weighing 1530 grams at Kasturba Hospital, M.G.I.M.S, Sevagram. The infant had multiple congenital anomalies, an Apgar of 1,3,3 at 1,5 and 10 minutes respectively and succumbed after two and half hours of life. There was no history of consanguinity in the parents, exposure to known teratogens or a family history of malformations. Mother did not receive folic acid during the periconceptional period.

71. MSN Health - Dystrophy nord Tardive Oral Dyskinesia nord TARSA (thrombocytopenia absent radiusSyndrome Association) thrombocytopenia absent radius shc Tarsal Cyst http://content.health.msn.com/content/healthwise/18/4396.htm

MARCH 31, 2003 Join Sign In Search Health: Health Home Condition Centers Fitness Staying Well Clinical Trials Medical Library Library Overview Ask A Question Health-E-Meters Medical Encyclopedia ... Quick Facts [sponsored] Children's Growth Heart Failure? Insulin-dependent? [sponsored] Parkinson's Help Home Defibrillator Trouble Focusing? For the latest MSNBC Health News, click here. Medical Library Medical Encyclopedia Article Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... TY T- T-Lymphocyte Deficiency [nord] back to top T. T.A.R.S.A. (Thrombocytopenia Absent Radius Syndrome Association) - Thrombocytopenia Absent Radius [shc] T.H.E. BRAIN TRUST (The Healing Exchange) - Brain Tumor [shc] T.H.E. BRAIN TRUST (The Healing Exchange) - Head Injury / Brain Tumor / Coma [shc] T.O.P.S. (Take Off Pounds Sensibly) - Overweight [shc] ... back to top TA Tachycardia (Fast Heart Rate) [special-topic] TAD [nord] Takatsuki syndrome [nord] Takayasu Disease [nord] ... back to top TB TB (Tuberculosis) [major-topic] TBM [nord] back to top TC TCD [nord] TCO2 (Total Carbon Dioxide) [medical-test-topic] TCOF1 [nord] TCS [nord] ... back to top TD TD [nord] TDO Syndrome [nord] back to top TE Tear Ducts, Blocked [major-topic]

72. A Listing Of Disorders Thrombasthenia of Glanzmann and Naegeli. Thrombocythemia, Essential. thrombocytopeniaAbsent radius syndrome. thrombocytopenia, Essential. Tietze syndrome. Tinnitus. http://medschool.umaryland.edu/BTBank/Family/Disorders_T.htm

Brain and Tissue Bank University of Maryland, Baltimore T Tangier Disease Tardive Dyskinesia Tarsal Tunnel Syndrome Tarui Disease Tay Sachs Disease Telecanthus with Associated Abnormalities Temporomandibular Joint Dysfunction (TMJ) Tethered Spinal Cord Syndrome Tetrahydrobiopterin Deficiency Tetralogy of Fallot Thalamic Syndrome (Dejerine Roussy) Thalassemia Major Thalassemia Minor Thanatrophic Dwarfism Three M Syndrome Thrombasthenia of Glanzmann and Naegeli Thrombocythemia, Essential Thrombocytopenia Absent Radius Syndrome Thrombocytopenia, Essential Tietze Syndrome Tinnitus Tolosa Hunt Syndrome Tooth and Nail Syndrome Tourette Syndrome Townes Brocks Syndrome Tracheal Atresia Treacher Collins Syndrome Tricho Dento Osseous Syndrome Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type II Trichorhinophalangeal Syndrome Type III Trigeminal Neuralgia (Tic Douloureux) Trimethylaminuria Triplo X Syndrome Triploid Syndrome Trismus Pseudocamptodactyly Syndrome Trisomy Trisomy 13 Syndrome Trisomy 18 Syndrome Tropical Sprue Truncus Arteriosus, Persistent

73. Genetic Disorders : Meddie Health Search SmithMagenis syndrome (3). Soto's syndrome (4). Sturge-Weber syndrome (4). ThrombocytopeniaAbsent radius syndrome (3). Turner syndrome (7). Urea Cycle (4). http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

74. Genetic Conditions / Rare Conditions Information Site Pick, Canavan, Bloom); Thalassemia (Cooley anemia); Thrombocytopeniaabsent radius syndrome; Tourette syndrome; Treacher Collins syndrome http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

75. WebGuest - Open Directory Health Conditions And Diseases Top Health Conditions and Diseases Genetic Disorders ThrombocytopeniaAbsent radius syndrome (4). See also Health Conditions http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

76. TAR Syndrome Shelton SD, Paulyson K, Kay HH. Prenatal diagnosis of thrombocytopenia absentradius syndrome and vaginal delivery. Prenat Diagn, 1999; 195457. http://ams.cu.edu.tr/July2000Vol9No2/tar.htm

Two New Cases of Thrombocytopenia-Absent Radii (TAR) Syndrome* Ercan Kýrými, MD, Nejat Narlý, MD, Mehmet Satar, MD. Thrombocytopenia-absent radii syndrome is characterized by the neonatal onset thrombocytopenia and bilateral absence or hypoplasia of the radii with normal or poorly formed hands and thumbs. In this paper, two unrelated female infants affected by thrombocytopenia-absent radii syndrome are described. At birth, bilateral micromelia of upper limbs, short and radially curved forearms and hypoplastic arms were observed in infants. A severe thrombocytopenia confirmed the clinical diagnosis of thrombocytopenia-absent radii syndrome. One of them died on 19 th day at home with hemorrhagic complications because she was discharged by her family. Other patient supported with thrombocyte suspensions is now eight months old and is still being followed closely at our outpatient department. As a result, two patients with thrombocytopenia-absent radii syndrome which are seen rarely discussed with physical, laboratory and follow specifications. Ann Med Sci 2000;9:78-81 Key words: Thrombocytopenia-absent radii syndrome.

77. UNSW Embryology-OMIM Glaucoma List ALPHAA; CRYAA 600776 ANOPHTHALMIA-PLUS syndrome 300166 OCULOFACIOCARDIODENTAL syndrome*274000 THROMBOCYTOPENIAABSENT radius syndrome 236750 HYDROPS FETALIS http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/nerve/glaucomalist.htm

UNSW Embryology DEVELOPMENT OF NEURAL SYSTEM Embryology Home Page Glaucoma List Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology- Neural Notes Select Entries from OMIM Online Mendelian Inheritance in Man 101 entries found, searching for "glaucoma" GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA 1, OPEN ANGLE, B; GLC1B GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 GLAUCOMA 1, OPEN ANGLE, E; GLC1E GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B GLAUCOMA 1, OPEN ANGLE, D; GLC1D GLAUCOMA 1, OPEN ANGLE, F; GLC1F ACKERMAN SYNDROME IRIDOGONIODYSGENESIS, TYPE 1; IRID1 IRIDOGONIODYSGENESIS, TYPE 2; IRID2 GLAUCOMA, JUVENILE SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION GLAUCOMA 1, OPEN ANGLE, C; GLC1C DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA TETRALOGY OF FALLOT AND GLAUCOMA GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE GLAUCOMA AND SLEEP APNEA GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS

78. UNSW Embryology-OMIM Tetralogy Of Fallot List ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 270400 SMITHLEMLI-OPITZ syndrome, TYPEI *274000 THROMBOCYTOPENIAABSENT radius syndrome *145410 HYPERTELORISM http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/heart/OMIM-tof_list.htm

UNSW Embryology DEVELOPMENT OF THE HEART AND CARDIOVASCULAR SYSTEM Embryology Home Page TETRALOGY OF FALLOT Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Normally the blue numbers below would link to a full description of the abnormality. Back to UNSW Embryology-Heart Notes Back to TETRALOGY OF FALLOT entry 38 entries found, searching for "tetralogy of fallot" TETRALOGY OF FALLOT HYPERTELORISM AND TETRALOGY OF FALLOT TETRALOGY OF FALLOT AND GLAUCOMA FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION DIGEORGE SYNDROME; DGS VELOCARDIOFACIAL SYNDROME RECOMBINANT CHROMOSOME 8 SYNDROME CONOTRUNCAL HEART MALFORMATIONS; CTHM NOONAN SYNDROME 1; NS1 CAT EYE SYNDROME; CES FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA FRONTONASAL DYSPLASIA ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA

79. From The Grand Rounds Archive At Baylor Examples of congenital platelet disorders include thrombocytopenia absent radiussyndrome, Amegkaryocytic thrombocytopenia, Glanzmann's Thrombasthenia and http://www.bcm.tmc.edu/oto/grand/11394.html

Grand Rounds Archives The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at The Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature. BLEEDING DISORDERS IN PEDIATRIC OTOLARYNGOLOGY November 3, 1994 Warren E. Morgan, M.D. Bleeding disorders may complicate many routine otolaryngology procedures. This may result from technical errors, but bleeding associated with defects in the coagulation system may be difficult to control. All otolaryngologists should be aware of common bleeding disorders and their treatment. Normal coagulation may be divided into three phases: vascular response, platelet activation, and the coagulation cascade. The initial vascular response of vasoconstriction occurs immediately after the injury. Platelet adherence occurs in response to collagen exposure by endothelial damage. Further platelet adhesion is mediated through specific platelet receptors and mediators creating an unstable hemostatic plug. Coincident with the platelet activation, the coagulation cascade is initiated by the release of tissue thromboplastin and contact-activating factors. The coagulation cascade forms a fibrin matrix that reinforces the platelet plug.

80. Browsing Health Conditions And Diseases Genetic Disorders Thrombocytopenia Absen Browse Health Conditions and Diseases Genetic Disorders ThrombocytopeniaAbsent radius syndrome Top Health Conditions and Diseases http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/Genetic_Dis

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