Marinesco-Sjogren Syndrome marinescosjogren syndrome (MSS) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), post-natal cataracts, generally http://www.marinesco-sjogren.org/
Extractions: FAQs Medical overview Family stories Research ... Publications Welcome! Marinesco-Sjogren Syndrome (MSS) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), post-natal cataracts, generally some degree of cognitive delay, and very small stature. About 100 cases have been diagnosed worldwide. The purpose of this website is to provide information and support to families affected by MSS and to encourage communication between doctors and researchers interested in this disorder. The website provides information about MSS, as well as links to other useful sites. Explore our site to learn more about MSS or contact us to communicate with other families. This is a site run by a small number of MSS families, and dedicated to our very special children. Please do contact us whatever your interest in MSS. We will be delighted to hear from you and promise you a response. This website was last updated on February 24, 2004.
Marinesco-Sjogren Syndrome links to national and international MarinescoSjogren resources, clinics with genetic counselors and geneticists marinesco-sjogren syndrome (MSS) ataxia (balance and coordination problems), post-natal cataracts, cognitive delay, small stature. marinesco-sjogren syndrome ( MSS) Support Group http://www.kumc.edu/gec/support/marinesc.html
NORD - National Organization For Rare Disorders, Inc. MarinescoGarland Syndrome. marinesco-sjogren syndrome-Hypergonadotrophic Hypogonadism. marinesco-sjogren syndrome General Discussion. marinesco-sjogren syndrome (MSS) is http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Marinesco Sjo
Neurology -- Abstracts: Merlini Et Al. 58 (2): 231 MR Imaging Features in marinescosjogren syndrome Severe Cerebellar Atrophy Is Not an cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and marinesco-sjogren syndrome. J. Med http://www.neurology.org/cgi/content/abstract/58/2/231
Extractions: 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: L.Kalaydjieva@ecu.edu.au 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
Marinesco-Sjogren Syndrome: Shiibo Li Biography SHIBO LI, MD, FACMG Title Associate Professor of Pediatrics Director, Genetics Laboratory. Office Address Oklahoma University Health http://www.marinesco-sjogren.org/shibo.html
Extractions: Professional/Research Experiences 1999-present Associate Professor of Pediatrics, Director, Genetics Laboratory, Oklahoma University Health Sciences Center, Department of Pediatrics, Genetics Laboratory, Oklahoma City, OK 1998-1999 Adjunct Assistant Professor, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 1996-1999 Assistant Professor of Medical Genetics, Director of DNA Diagnostic Laboratory, Assistant Director, Clinical Cytogenetics Laboratory, University of South Alabama, Mobile, AL 1995-1996 Postdoctoral Fellow, UCLA Intercampus Medical Genetics Training Program, Los Angeles, CA Adjunct Assistant Professor, Department of Medical Genetics, University of South Alabama, College of Medicine, Mobile, AL
Marinesco Sjogren Syndrome marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in http://www.peacehealth.org/kbase/nord/nord868.htm
Extractions: It is possible that the main title of the report Marinesco Sjogren Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Marinesco-Sjogren Syndrome is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in the cerebellum (cerebellar ataxia), loss of clearness in the eyes' lenses (cataract), increased muscle tension (spasticity), progressive muscle weakness, and mental deficiency. National Scoliosis Foundation
Genetic Conditions / Rare Conditions Information Site cartilaginous enchondromatosis); Malignant hyperthermia; Maple syrup urine disease; marinescosjogren syndrome; Marfan syndrome; Menkes http://www.kumc.edu/gec/support/
Health Library - Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
About The Newsletter overview of gonadal function in Marinesco Sjogren Syndrome (MSS), an introduction to the Gonadal Function In marinesco-sjogren syndrome by Jo Anne Brasel, M.D http://www.marinesco-sjogren.org/NEWS2.pdf
Entrez PubMed Marinesco Sjogren syndrome with rhabdomyolysis. In conclusion, acute rhabdomyolysis can occur as a neuromuscular complication of marinescosjogren syndrome. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed
Definitions Of Genetic Disorders-M. htm MarieSainton Disease cleidocran.htm Marie Strumpell Disease ankspon.htm Marie-Strumpell Spondylitis ankspon.htm marinesco-sjogren syndrome sjogren.htm http://www.icomm.ca/geneinfo/def-m.htm
Healthwise Topic Marinesco Sjogren Syndrome, Back to previous page. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. http://www.stlukes-sf.sutterhealth.org/health/healthinfo/index.cfm?section=healt
AJNR -- Abstracts: Georgy Et Al. 19 (2): 281 by American Society of Neuroradiology. ARTICLES. Neuroradiologic findings in marinescosjogren syndrome. BA Georgy, RD Snow, BG Brogdon http://www.ajnr.org/cgi/content/abstract/19/2/281
Extractions: Department of Radiology, University of South Alabama College of Medicine, Mobile, USA. PURPOSE: Our purpose was to determine the neuroradiologic findings of Marinesco-Sjogren syndrome on plain skull radiographs, CT, and MR images. METHODS: Eight patients with proved Marinesco-Sjogren syndrome (age range, 4 to 56 years) had a total of nine CT scans, seven MR imaging studies, and two plain radiographic examinations of the skull. The findings were reviewed retrospectively, with particular attention to the size of the posterior fossa and cerebellum. RESULTS: All patients had hypoplastic
