21. Dubowitz Syndrome Information Diseases Database dubowitz syndrome, Disease Database Information. Send dubowitz syndrome tomedical search engines. (JavaScript enabled browsers only.) http://www.diseasesdatabase.com/ddb32652.htm

Diseases Database Index Sponsors Contact ... Previous Page Dubowitz syndrome information Search Dubowitz syndrome may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Dubowitz syndrome: Definition(s) via UMLS Code translations and terms via UMLS Dubowitz syndrome: specific web sites Send Dubowitz syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 03:31:14 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

22. NORD - National Organization For Rare Disorders, Inc. dubowitz syndrome articles, support groups, and resourcesdubowitz syndrome articles, support groups, and resources for patients from MedHelp International (www.medhelp.org) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dubowitz Synd

23. Detail Sourcebook Listing Title Dubowitz Syndrome Information , Providessupport, understanding and information to families affected by Dubowitz......Title, dubowitz syndrome Information Parent Support. http://www.medhelp.org/amshc/amshc1030.htm

Detail Sourcebook Listing Title: Description: Provides support, understanding and information to families affected by Dubowitz syndrome, a rare genetic disorder defined by growth retardation, microcephaly, and a characteristic facial appearance. Literature, information and referrals, phone support, pen pal program. Scope: International network Founded: Telephone: Email: bobbiep@dubowitz.org Web Address: http://www.dubowitz.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to admin@selfhelpgroups.org Updated: 02/2005

24. OMIM - DUBOWITZ SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223370

25. Entrez PubMed We review clinical information on 141 individuals with dubowitz syndrome, We define the dubowitz syndrome phenotype on the basis of clinical http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

26. Short Description Of Cell Lines. Pathology: Dubowitz Syndrome *223370 Version 4.200205. Short description of cell lines. Pathology dubowitz syndrome *223370OMIM record. By selecting the cell line name, you will receive the http://www.biotech.ist.unige.it/cldb/pat213.html

Version Short description of cell lines. Pathology: Dubowitz syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser IMG-1370 human skin, fibroblast MWCMG ... By Beatrice...

27. IMG-1370 Species human; Tissue skin, fibroblast; Pathology dubowitz syndrome. Available inthe following LABORATORY. Russian Academy of Medical Sciences (MWCMG, http://www.biotech.ist.unige.it/cldb/cl2720.html

Version Complete description of the cell line that you requested. IMG-1370 ( human skin, fibroblast Dubowitz syndrome (OMIM record) Species: human; Tissue: skin, fibroblast; Pathology: Dubowitz syndrome Available in the following LABORATORY Russian Academy of Medical Sciences (MWCMG, Moscow) primary culture, grown as monolayer By Beatrice...

28. Hill Health Topics A-Z - Dubowitz Syndrome NE dubowitz syndrome Support c/o Sharon Terzian 106 Verndale St. Warwick, RI02889 CALL 401737-3138 dubowitz syndrome Information and Parent Support http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=shc29dub&S

29. Hill Health Topics A-Z - Dubowitz Syndrome dubowitz syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report dubowitz syndrome is not the name http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord198&SE

30. Dubowitz Syndrome - St. Joseph Mercy, Ann Arbor Michigan dubowitz syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/13443.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Dubowitz Syndrome NE Dubowitz Syndrome Support Dubowitz Syndrome Information and Parent Support This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. NE Dubowitz Syndrome Support Model. 1 group in Rhode Island. Founded 1997. Information, education, support and networking for parents of children with Dubowitz syndrome, and concerned professionals. Information on assistive technology and education issues. Referrals, pen pals, advocacy, information on geneticists. WRITE: NE Dubowitz Syndrome Support c/o Sharon Terzian 106 Verndale St. Warwick, RI 02889

31. Kprones DUB10016 dubowitz syndrome review of 141 cases including 36 previously Huret JL andLéonard C . dubowitz syndrome. Atlas Genet Cytogenet Oncol Haematol. http://www.infobiogen.fr/services/chromcancer/Kprones/DUB10016.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Dubowitz syndrome Identity Note Dubowitz syndrome may be confused with Bloom syndrome ; another differential diagnosis is fetal alcohol syndrome Inheritance autosomal recessive; heterogeneity cannot be excluded; less than 150 cases described Clinics Note phenotypic spectrum variable Phenotype and clinics growth: from normal to severe retardation; intrauterine growth retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age. head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism; blepharophimosis; microretrognathia. skin: eczema, a classical sign, may be absent. congenital heart defects in 10%; other malformations: ocular, dental, skeletal, urogenital in male patients; frequent infections. mental retardation in 30-70 % of cases (from normal in 30% to severe retardation in 10%); siezures in 10%high-pitched voice; behaviour problems in 40%; most patients are 'hyperactive, shy, like music'. Neoplastic risk haematological malignancies and pancytopenia in 10%

32. Anomalies ChildMDS Bloom syndrome (MIM 21090) a chromosome instability syndrome dubowitz syndrome (MIM22337) mimicks Bloom s, but without chromosome instability http://www.infobiogen.fr/services/chromcancer/Anomalies/childMDS.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Childhood myelodysplastic syndromes Clinics and Pathology Disease very heterogeneous: I- idiopathic MDS II- secondary MDS: to previous chemo- and/or radio-therapy III- 'genetic MDS': cases associated with a congenital genetic disease, such as: neurofibromatosis type 1 (Von Recklinhausen) (MIM 16220): an hamartoneoplastic syndrome Kostmann syndrome (MIM 20270): also called congenital neutropenia Bloom syndrome (MIM 21090): a chromosome instability syndrome Dubowitz syndrome (MIM 22337): mimicks Bloom's, but without chromosome instability Fanconi anaemia (MIM 22765): a chromosome instability syndrome -Schwachman syndrome (MIM 26040): with pancreatic insufficiency, and risksof leukaemia -Pearson disease (MIM 26056) and other mitochondrial diseases: they often share pancreatic insufficiency, bone marrow pancytopenia with myelodysplastic features but maintained polyclonality, muscular and other ubiquitous manifestations -familial monosomy 7 -familial platelet storage pool deficiency -unbalanced constitutional karyotypes, including +21, +8,del(11q), del(21q) miscellaneous conditions.

33. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ National Library of Medicine dubowitz syndrome, a look at the synonyms, Health Library - dubowitz syndrome - The synonyms of this disorder with a http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Dubowitz Syndrome Subtopics See Also: Health: Conditions and Diseases: Rare Disorders Search Google: Dubowitz Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)

34. Birth Disorder Information Directory - D dubowitz syndrome. Short description of cell lines. Pathology dubowitz syndrome dubowitz syndrome Information and Parent Support dubowitz syndrome http://www.bdid.com/defectd.htm

HOME D D Ercole Syndrome (Short Stature with Microcephaly and Heart Defect) D ercole syndrome D-Glycerate Dehydrogenase Deficiency See Hyperoxaluria Kinase Deficiency (D-Glycericacidemia; Hyperglycinemia Syndrome, Nonketotic) D-glycerate kinase deficiency D-GLYCERICACIDEMIA Support Group D-Glycericacidemia See D-Glycerate Kinase Deficiency Da Silva Syndrome (Mental Retardation with Hypoplastic Corpus Callosum and Preauricular Tag) Da silva syndrome Dacryocystitis/Dacryostenosis (Blocked Tear Duct) List of Sites -Osteopoikilosis See Gunal Seber Basaran Syndrome Dandy Walker Malformation/Syndrome List of Sites Danon Disease (Glycogen Storage Disease, Type IIB) Glycogen storage disease type 2B Dappled Metaphysis Syndrome See Strudwick Syndrome Darier (White) Disease (Keratosis Follicularis) Keratosis follicularis Dyskeratosis Follicularis (Includes Images) DARIER-WHITE DISEASE; DAR Also see Hailey Hailey Disease Davidson's Disease See Microvillous Inclusion Disease De Barsy Syndrome (Cutis Laxa with Corneal Clouding and Mental Retardation; Progeroid Syndrome, De Barsy Type) Cutis laxa corneal clouding mental retardation CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION

35. Epileptic Seizures, EEG Abnormalities, And Neuronal Heterotopia In The Dubowitz dubowitz syndrome is an inherited disorder with intrauterine and The diagnosisof dubowitz syndrome requires a high degree of suspicion because the http://apt.allenpress.com/aptonline/?request=get-abstract&issn=1086-508X&volume=

36. Dubowitz Syndrome, Eastern Carolina dubowitz syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117650.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Dubowitz Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. NE Dubowitz Syndrome Support Model. 1 group in Rhode Island. Founded 1997. Information, education, support and networking for parents of children with Dubowitz syndrome, and concerned professionals. Information on assistive technology and education issues. Referrals, pen pals, advocacy, information on geneticists. WRITE: NE Dubowitz Syndrome Support c/o Sharon Terzian 106 Verndale St. Warwick, RI 02889 CALL: 401-737-3138 E-MAIL: dubowitzsyndrome@netzero.net WEBSITE: http://www.dubowitzsyndrome.net VERIFIED: 10/8/2004 Dubowitz Syndrome Information and Parent Support National network. Founded 1998.

37. Dubowitz Syndrome Synonyms, Eastern Carolina dubowitz syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/112702.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Dubowitz Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Dubowitz 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. Synonyms Intrauterine Dwarfism Disorder Subdivisions None General Discussion Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal). Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.

38. EMedicine - Silver-Russell Syndrome : Article By Ainu Prakash-Cheng, MD, PhD SilverRussell Syndrome - Silver-Russell syndrome (SRS) originally was Fetal Alcohol Syndrome. Other Problems to be Considered. dubowitz syndrome http://www.emedicine.com/ped/topic2099.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Silver-Russell Syndrome Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ainu Prakash-Cheng, MD, PhD , Co-Director, Comprehensive Gaucher Disease Treatment Center, Department of Human Genetics, Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Ainu Prakash-Cheng, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American Society of Gene Therapy , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD

39. EMedicine - Nijmegen Breakage Syndrome : Article By Krystyna H Chrzanowska, MD, Other Problems to be Considered. Primary microcephaly dubowitz syndrome Seckelsyndrome ATlike disease Congenital cytomegalovirus infection http://www.emedicine.com/derm/topic725.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Nijmegen Breakage Syndrome Last Updated: May 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Nijmegen breakage syndrome; NBS; Berlin breakage syndrome; BBS; Seemanová syndrome II; ataxia-telangiectasia variants; AT-V1; AT-V2; microcephaly, immunodeficiency, and chromosomal instability; microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies; MIM 251260; OMIM 251260; MIM 602667; OMIM 602667 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Krystyna H Chrzanowska, MD, PhD , Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland Coauthor(s): Camila K Janniger, MD

40. Welcome To Bridges4kids.org! Disability Information dubowitz syndrome. General Information dubowitz syndromeis a very rare genetic and developmental disorder involving multiple http://www.bridges4kids.org/Disabilities/Dubowitz.html

Early On Lead Poisoning Positive Behavior Support No Child Left Behind ... LDA of Michigan Where to find help for a child in Michigan Anywhere in the U.S. , or Canada What's New? Help Text Menu ... Translate Last Updated: Disability Information - Dubowitz Syndrome General Information Articles Related to this Disability Medical Information back to the top ... report a bad link General Information Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal). Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.

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