41. Taryn's Club Med: The Whole Kaboodle Mark and Adam Robert s Road to Recovery; marinescosjogren syndrome About Kimberly;morquio syndrome Home Page de Josuezinho e Isaque http://www.tarynsworld.org/taryn/clubmed-all.htm

taryn's world club med presents: here 'r all the switch kid websites we've got so far; send me or my webmister webmister hint: just pick a letter, click 'n go - or you can always use the scroll bar thingy if you want to! Click Hand for Club Med! new switch kids added: May 27, 2003 autism Bradley Olson: A Person With Autism apert syndrome Teeter's Page cerebral palsy Amanda's Friends Zoe's Page coffin-siris syndrome Tyler's Home Page cornelia de lange Amanda's Room Baylee's Web Suite cutis laxa Animaux en Folie (Taryn's World's very own reporter, Cecile!) cystic fibrosis Haley's Hope Ricky's Page fanconia anemia Hope For Henry fibrodysplasia ossificans progressiva Sarah Steele's Guidebook for Children hunter syndrome Ethan's Feeling Switch hurler syndrome Maddy's Page Reach Out to Romie kabuki syndrome Chayce's Page klippel-trenaunay-weber syndrome Tiffany's Page krabbe disease C.J.'s Page Hunter's Hope mannosidosis (my switch!) Jenny's Journal Mark and Adam Robert's Road to Recovery marinesco-sjogren syndrome About Kimberly morquio syndrome Home Page de Josuezinho e Isaque muscular dystrophy Ryan's MD Page noonan syndrome Darcie's Gallery of Stars prader-willi syndrome Karie's Story progeria Hayley's Progeria Page sanfilippo syndrome A Cure for Kirby Julia's Hope skeletal dysplasia My Ashly's rare skeletal dysplasia Page sialidosis Alexander's Hope spina bifida Taryn's Page Taryn spinal muscular atrophy

42. Journal Of Pediatric Orthopaedics - Abstract: Volume 22(3) May/June 2002 P 399-4 Orthopaedic Manifestations of marinescosjogren syndrome. Summary Two patientswith marinesco-sjogren syndrome had striking orthopaedic abnormalities http://www.pedorthopaedics.com/pt/re/jpedortho/abstract.00004694-200205000-00027

LWWOnline LOGIN eALERTS REGISTER ... Archive Orthopaedic Manifestations of Marinesco-Sjogren... ARTICLE LINKS: Fulltext PDF (488 K) Permissions Orthopaedic Manifestations of Marinesco-Sjogren Syndrome. Journal of Pediatric Orthopedics. 22(3):399-403, May/June 2002. Reinker, Kent M.D. *; Hsia, Y. Edward M.D. +; Rimoin, David L. M.D., Ph.D. ++[//]; Henry, George M.D. [S]; Yuen, Juliet Ph.D. +; Powell, Berkley M.D. [P]; Wilcox, William R. M.D., Ph.D. [//] Abstract: Summary: Two patients with Marinesco-Sjogren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles resulted in progressive valgus, patellar dislocation, and quadriceps dysfunction. Marinesco-Sjogren syndrome seems to arise from an error in lysosomal handling of lipids. Timely orthopaedic intervention may be helpful in prolonging ambulation in these patients. Subscribe to RSS feed utrdc-pt01 Release 4.0

43. Link Directory - Finnish Information Center On Mental Retardation MarinescoSjögren syndrome, marinesco-sjogren.org Linkage studies onmarinesco-sjogren syndrome and hypergonadotropic hypogonadism, Skre H, Berg K, http://www.saunalahti.fi/kup/engl/webs_m.html

Finnish Information Center on Mental Retardation English links A B C D ... Z MacDermot-Winter Syndrome Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development,MacDermot KD, Winter RM, Am J Med Genet. 1989 - PubMed MACDERMOT-WINTER SYNDROME, OMIM, Victor A. McKusick MacDermot-Winter syndrome. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Prominent glabella microcephaly hypogenitalism, Orphanet Macrocephaly MACROCEPHALY, OMIM, Victor A. McKusick MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA, OMIM, Victor A. McKusick, Michael J. Wright et al MACROCEPHALY, BENIGN FAMILIAL, OMIM, Victor A. McKusick MACROCEPHALY/AUTISM SYNDROME, OMIM, Sonja A. Rasmussen ... Increased head circumference, MedlinePlus Malouf Syndrome Malouf syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes 212112 CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM, OMIM Hypogonadism cardiomyopathy, Orphanet Malpuech Sybdrome MALPUECH FACIAL CLEFTING SYNDROME, OMIM, Victor A. McKusick Malpuech syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Two sibs with Malpuech syndrome, Giangiorgio Crisponi, Andrea Raffaele Marras and Adriano Corrias, American Journal of Medical Genetics Aniridia Network Maple Syrup Urine Disease MAPLE SYRUP URINE DISEASE, OMIM, Victor A. McKusick et al.

44. MUMS List Of Disorders - M MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) *; Macrocephaly (largehead) marinescosjogren syndrome (1) www.marinesco-sjogren.org http://www.netnet.net/mums/mum_m.htm

Return to MUMS Home Page MUMS: List of Disorders M Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/ Macrodactyly (Large toes or fingers) (2) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Atrophic Papulosis(Degos disease) www.degosdisease.com Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org

45. Links marinescosjogren syndrome Support Group. www.marinesco-sjogren.org. Meniere ssupport Group of NSW Inc. emailnswmsg@hinet.net.au http://www.agsa-geneticsupport.org.au/links.html

Other Useful Links AboutFace AIS Support Groups Network (i.e.Androgen Insensitivity syndrome) http://www.vicnet.net.au/~aissg email: aissg@primus.com.au American Liver Society www.liversociety.org Angelman Syndrome Association email: simonek@angelmansyndrome.org www.angelmansyndrome.org Aniridia Network P O Box 6444 Colchester CO 3XU UK hannah@aniridia-network.net Aussie F.O.L.K.S. The Australian Landau Kleffner Association email: kaprice@tpg.com.au www.angelfire.com/hi5/aussiefolks/ email: harry@partridge.com.au www.battens.org.au Aust. Chrohn's and Colitis Association (ACCA) Freecall 1800 138 029 email: info@acca.net.au www.acca.net.au Australasian Genetic Alliance (AGA) Secretariat email: info@geneticsupprotcouncil.org.au http://geneticsupportcouncil.org.au Aust.Huntington's Disease Ass.(NSW) Inc. email: enquiries@ahdansw.asn.au www.ahdansw.asn.au Australian Leukodystrophy Support Group email: leuko@vicnet.net.au http://avoca.vicnet.net.au~leuko/ or email: leukodystrophy.info@nzord.org.nz

46. UNSW Embryology-OMIM Scoliosis List *248800 marinescosjogren syndrome; MSS *249310 MEGALOCORNEA-MENTAL RETARDATIONSYNDROME 147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-scoliosis_list.htm

47. Select Entries From OMIM Online Mendelian Inheritance In Man *248800 marinescosjogren syndrome; MSS *115650 CATARACT, ANTERIOR POLAR, 1;CTAA1 *302350 CATARACT-DENTAL SYNDROME 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS http://embryology.med.unsw.edu.au/OMIMfind/eye/congen_cataract.htm

48. ► Congenital Cataract cerebrohepatorenal syndrome (Lowe s syndrome); Trisomy 13; Conradi syndrome;Ectodermal dysplasia syndrome; marinescosjogren syndrome http://www.umm.edu/ency/article/001615.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Congenital cataract Overview Symptoms Treatment Prevention Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Alternative Names: Cataract - congenital Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Eye Cataract - close-up of the eye Rubella Syndrome Cataract Review Date: 6/6/2001 Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

49. Geneticalliance.org Conditions Served marinescosjogren syndrome. Maryland Patient Advocacy GroupConditions Served. Massachusetts Down Syndrome Congress http://www.geneticalliance.org/ws_display.asp?filter=diseases_support_groups&key

50. Penn State Faculty Research Expertise Database (FRED) marinescosjogren syndrome, Spinocerebellar Degeneration. Early Onset CerebellarAtaxia Maries Cerebellar Ataxia, Marinesco Sjogren Syndrome http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013132

51. Marinesco-Sjögren Syndrome MR Imaging Features in marinescosjogren syndrome Severe Cerebellar Atrophy IsNot an Obligatory Finding Linkage to 18qter differentiates two clinically http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=504

52. List Of Diseases Starting With M: Information From Answers.com Marie type ataxia; Marie Unna congenital hypotrichosis; Marinesco Sjogren likesyndrome; marinescosjogren syndrome; Marion Mayers syndrome http://www.answers.com/topic/list-of-diseases-starting-with-m

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with M Wikipedia List of diseases starting with M A list of diseases in the English wikipedia. A B C D ... L M N O P Q ... Z Ma Mac Mac Ardle disease Mac Dermot Patton Williams syndrome Mac Dermot Winter syndrome Maci-Macr Macias Flores Garcia Cruz Rivera syndrome Mackay Shek Carr syndrome Macleod Fraser syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short stature paraplegia Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia Mcalister Coe type Macroglobulinemia Macroglossia dominant Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrophagic myofasciitis Macrosomia developmental delay dysmorphism Macrosomia microphthalmia cleft palate Macrothrombocytopenia progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related

53. DrScore :: Improving Patient Care marinescosjogren syndrome Myasthenia Gravis Foundation of America, Inc. back to top. marinesco-sjogren syndrome. www.marinesco-sjogren.org http://www.drscore.com/advocacy/list.cfm

Image1 = new Image(496,175) Image1.src = "/img/chz_1.gif" Image2 = new Image(496,175) Image2.src = "/img/chz_2.gif" Image3 = new Image(496,175) Image3.src = "/img/chz_3.gif" Image4 = new Image(496,175) Image4.src = "/img/chz_4.gif" Home Privacy Principles Contact ... Patient Advocacy Groups Patient Advocacy Groups One of the best ways patients can learn more about medical conditions and illnesses is through patient advocacy groups. Patient advocacy groups provide a wealth of information, services and support. We encourage you to use and support these organizations. They exist to serve you-the patient-and are key to the research of new and improved treatments, and ultimately a cure, for many diseases. PATIENT ADVOCACY GROUPS DrScore believes in the power of patient advocacy and supports these organizations, which are tirelessly working to improve the quality of life of millions of patients throughout the United States. Below is a list of many patient advocacy groups in the United States. Please click on a group to learn more about that cause and organization. AboutFace USA Alpha-1 Foundation Alstrom Syndrome International Alzheimer's Association, Inc.

54. Genetic Identity Of Marinesco-Sjogren/myoglobinuria And CCFDN Syndromes -- Merli MR Imaging Features in marinescosjogren syndrome Severe Cerebellar Atrophy IsNot an Obligatory Finding AJNR Am. J. Neuroradiol., May 1, 2003; http://www.neurology.org/cgi/content/abstract/58/2/231

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Merlini, L. Articles by Kalaydjieva, L. Related Collections Peripheral neuropathy Muscle disease Neurology American Academy of Neurology L. Merlini, MD R. Gooding, BSci M.C. Walter, MD D. Angelicheva, PhD B. Talim, MD J. Hallmayer, MD and L. Kalaydjieva, MD PhD Address correspondence and reprint requests to Dr. Luba Kalaydjieva, Center for Human Genetics, Edith Cowan University, Perth, WA 6027, Australia; e-mail: Objective and Background: To describe three Gypsy families with and recurrent episodes of myoglobinuria in five of the six affected subjects. Because these families originated from the same genetically isolated founder population as did patients with congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, and

55. Neurology -- Sign In Page MR imaging features in MarinescoSjögren syndrome severe cerebellar atrophy is not Marinesco-Sjögren syndrome clinical and magnetic resonance imaging http://www.neurology.org/cgi/content/full/63/12/2448

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Neurology Online. Full Text Harting et al. Neurology. This Article Figures Only Full Text (PDF) Correspondence: ... Alert me if a correction is posted Services Email this article 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 Harting, I. Articles by Ebinger, F. Related Collections All Imaging MRI Metabolic disease (inherited) Cerebellum To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

56. The Kuwait Medical Genetics Centre Joubert s syndrome, SmithLemli-Opitz syndrome, Sjogren-Larsen syndrome,marinesco-sjogren syndrome, Troyer- like syndrome, and cutis vertices gyrate. http://www.safat.com/kgc.html

The Kuwait Medical Genetics Centre (KMGC) was established in January, 1979, with the following aims: The accurate diagnosis of rare monogenic diseases. Investigating cases of congenital malformations. Providing genetic counselling for families with genetic disorders e.g. cases of male/female primary infertility, recurrent pregnancy loss, congenital malformations, structural/numerical chromosomal abnormalities, genetic forms of mental retardation, f amilial visual disorders and pre-marital counselling. Exploring the possible means of reducing neonatal mortality and physical disability. Providing training programmes for doctors and technical staff in the area of genetic counselling. The KMGC represents an independent entity located in the Maternity Hospital, and is affiliated to the Ministry of Health. The service is provided to a population size of 1.575.983 persons, including 655.820 (41.6%) Kuwaiti citizens and 920.163 (58.4%) non -Kuwaiti residents, mostly of Arab nationalities. The service is provided in liaison with departments of different specialities in satellite Genetics clinics attached to 5 regional hospitals including: Sabah and Ameri Hospital (serving 192.800 persons)

57. SEMERC: Information Services: Glossary: M marinescosjogren syndrome. Features include mild to moderate growth deficiency,cerebellar ataxia, muscular weakness and/or lax muscle tone, eye defects, http://www.semerc.com/information_services/a_z/m.asp

Search our online shop SEMERC Information Services: Glossary : M The SEMERC Glossary is kindly provided by David Fulton Publishing. Click on a letter to jump to the appropriate page. A B C D ... Z Macrocephaly An abnormally large head. Macroglossia An abnormally large tongue. Macroglossia, Exomphalos, Giantism Syndrome (See Beckwith-Weidemann Syndrome) Macrogyria Abnormally deep or wide folds (gyri) on the surface of the brain. Macro-orchidism Large testicles. Macrosomia A large body. Macrostomia An abnormally large opening between the lips, due to a cleftlike extension of the corners of the mouth. Malar Pertaining to the cheek or cheekbones. Malar Bones The cheekbones. Malignant Disease (See Disease) Makaton A form of sign language, originally developed for use with people with hearing loss, now widely used as an aid to communication for non-verbalising children and adults. Malocclusion Poor closure of the mouth because of faulty alignment of the teeth. Mandible The lower jaw bone.

58. Baylor Neurology Case Of The Month maple syrup urine disease, marinescosjogren syndrome, Refsum disease, Friedreich originally described this syndrome in 9 members of 3 sibships with http://www.bcm.edu/neurology/challeng/pat25/summary.html

Patient #25 Summary and Discussion Diagnosis: Friedreich's Ataxia Patient #25 presented with progressive gait and limb ataxia, mild distal symmetrical sensory loss, dimished deep tendon reflexes, weakness of the gluteal muscles, and bilateral extensor plantar responses. These findings indicate cerebellar, peripheral nerve (or dorsal root ganglion), and corticospinal involvement and imply a multisystem degenerative disease. There was no evidence of autonomic dysfunction, and eye movements were left unaffected. Extrapyramidal involvement was not present arguing against one of the Multi-System Atrophies (MSAs), such as olivopontocerebellar atrophy (OPCA). The most salient feature in this case is the patient's marked progressive ataxia. Ataxia may be due either to cerebellar or proprioceptive dysfunction, though it is rarely difficult to distinguish the two. However, when both are present, diagnostic difficulties arise. The findings in this case - gait and limb ataxia, titubation, loss of check response, and dysdiadochokinesia - point to an abnormality in the cerebellar system. This patient also had evidence of a peripheral neuropathy with involvement of the posterior columns evidenced by decreased position and vibratory sense. The degree of proprioceptive abnormality was not sufficient to explain the marked gait disturbance, however. While this patient exhibited dysfunction in both the cerebellar and proprioceptive systems, the cerebellar involvement was most impressive. The primary defect, therefore lies somewhere in the connections to, from, or within the cerebellum.

59. AtaxiasUntitled choreoathetosis, and eunuchoidism), Hereditary ataxia (with myotonia andcataracts), Hypertrophic interstitial neuritis, marinescosjogren syndrome, http://www.cmdg.org/Movement_/ataxias/ataxias.htm

The Canadian Movement Disorder Group Ataxia Ataxia is a term to describe loss of balance. The part of the brain that is involved in balance is at the back of the brain, attached to the brainstem, and is called the "Cerebellum". Damage to the cerebellum or its connections will result in unsteadiness of walking, and clumsiness of hand and foot coordination. Many conditions can cause the cerebellum to stop working normally. Cause of Ataxia include a huge number of conditions: Drug / Toxin induced cerebellar dysfunction: These include drugs; Clonazepam, Tegretol, Phenobarb, Primidone, Dilantin and toxins including; acute alcohol intoxication, alcoholism, solvent abuse , lead / mercury Trauma to the cerebellum Head Injury Endocrine Disorders (diseases of the glands that release hormones) Hypothyroidism Nutritional Deficiencies Vitamin B12 deficiency Neoplastic (Tumor) Paraneoplastic (Associated with a distant tumor) Vascular Causes (Stroke) These include; vasculitis (inflamation of blood vessels eg. Lupus), angioblastoma (a tumor of the blood vessels), embolism (a blood clot plugging a blood vessel), hemorrhage (a blood vessel rupturing and bleeding into the cerebellum), and Von-Hippel-Lindau Syndrome (a disorder of blood vessel formation)

60. SEC24A Gene Analysis In Marinesco-Sjogren Syndrome Translate this page SEC24A gene analysis in marinesco-sjogren syndrome. IC Cirò Candiano (1). D.Civitelli (1). EV De Marco (1). S. Carrideo (1). P. Tarantino (1). http://sigu.univr.it/sigu/congresso_2004/shortabstract/node365.html

INDICE COMUNICAZIONI INDICE AUTORI PROGRAMMA del CONGRESSO PAGINA DI ENTRATA ... HOME PAGE SIGU Next: DJ-1 gene in LATE-ONSET recessive Parkinson's disease Prev: Argomento: NEUROGENETICA (135 - POSTER P1 (Giovedì 14)) SEC24A gene analysis in Marinesco-Sjogren Syndrome (1). D. Civitelli (1). E.V. De Marco (1). S. Carrideo (1). P. Tarantino (1). P. Spadafora (1). F. Annesi (1). F.E. Rocca (1). G. De Cicco (1). G. Annesi (1). 1. Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone (CS), Italy INDICE COMUNICAZIONI INDICE AUTORI PROGRAMMA del CONGRESSO PAGINA DI ENTRATA ... HOME PAGE SIGU Next: DJ-1 gene in LATE-ONSET recessive Parkinson's disease Prev:

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