Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.drkoop.com/ency/article/001666sym.htm
ACP Online - Medicine In Quotations Online A case report of abetalipoproteinemia (bassenkornzweig syndrome) A case report of abetalipoproteinemia (bassen-kornzweig syndrome)the first case in Japan. Akamatsu K, Sakaue H, Tada K, Mizukami http://www.acponline.org/cgi-bin/medquotes.pl?subject=Abetalipoproteinemia (Bass
Entrez PubMed Pathological case of the month. Abetalipoproteinemia (bassenkornzweig syndrome). Sidler AK, Huston BM, Thomas DB. Department of http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Inheritance Of Retinal Degeneration - Page 7 disease. bassenkornzweig syndrome (Abetalipoproteinemia) RP and progressive neurologic problems are symptoms of this disease. Patients http://www.jwen.com/rp/ffb/ffb7.html
Extractions: When only one member of a family has a retinal degeneration, as we see in about 40 percent of families affected by RP, it is impossible to determine how the disease is inherited in that family. Nevertheless, to assess the risk of retinal degeneration occurring in other family members, it must be assumed that the disease is following one of the known inheritance patterns. Isolated cases of retinal degeneration most often represent autosomal recessive disease. Even though carrier parents have a 25 percent chance of having an affected child, there is still a 75 percent chance of having an unaffected child. So, it is often the case that there is only one child with a retinal degeneraUon in the family. Rarely, isolated cases of retinal degenerations represent new gene mutations. Retinal degenerations are caused by mutated genes that can pass through generations of a family. Occasionally, even when neither parent is affected nor carries an altered gene, one of the genes, usually in the egg or sperm, changes spontaneously from normal and becomes an altered gene, causing the disease in the child. New gene mutations most often represent the start of an autosomal dominant retinal degeneration, or when a ma is affected, either an autosomal dominant or X-linked retinal degeneration. Because a X-linked carrier female often shows mild effects of the altered gene, any mother of a male with an isolated case of retinal degeneration should be examined by an ophthalmologist to determine if she is a carrier.
Medical Encyclopedia Back to main Health Information page Disease bassen-kornzweig syndrome. Alternative Names abetalipoproteinemia, acanthocytosis http://www.georgetownuniversityhospital.org/body.cfm?id=18&action=display&articl
MUMS List Of Disorders - B Basal Encephalocele (1); Basal Ganglia Infarction (1); bassenkornzweig syndrome (Abetalipoproteinemia) (2) *; Bathing Suit Nevus (4 http://www.netnet.net/mums/mum_b.htm
Extractions: indicates there is a support group which covers that diagnosis. B1A Predominent Cells or Fetal Cells (1) BOR Syndrome (Brachio-Oto-Renal Dysplasia) (7) Baller-Gerold Syndrome (Craniosynostosis-Radial Aplasia) (2) Band Heterotropia (12) Bannayan-Riley-Ruvalcaba Syndrome (8) Bannayan-Zonana Syndrome (4) Bardet-Biedl Syndrome (Laurence-Moon) (20) * http://home.talkcity.com/OceanBlvd/iamahawkfan/bardetbeidlsyndrome.html Barrett Esophagus (2) Barth Syndrome (Cardiomyopathy, Hypotonia, Low White Count) (4) www.barthsyndrome.org Basal Cell Carcinoma Syndrome (1) * Basal Cell Nevus Syndrome (1) * Basal Encephalocele (1) Basal Ganglia Infarction (1) Bassen-Kornzweig Syndrome (Abetalipoproteinemia) (2) * Bathing Suit Nevus (4) * Batten Disease (Ceroid Lipofuscinosis) (27) * Batten-Bielschowski-Jansky Disease (2) * Beals Syndrome (Contractural Arachnodactyly) (13) Beckwith-Wiedemann Syndrome (26) * Beckwith Wiedemann Family Forum Behavior Disorder (326) Behcet's Syndrome (1) * www.behcets.cc
MUMS List Of Disorders - A Migraines (2); Abdominal Teratoma Tumor (5); Abetalipoproteinemia (4) *; Abetalipoproteinemia (bassenkornzweig syndrome) (1) *; Absence of http://www.netnet.net/mums/mum_a.htm
Extractions: indicates there is a support group which covers that diagnosis. 2 Hydroxic Gluteric Urea (1) 2 Keto Adepic Aciduria (1) 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) * 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1) 3 Methylglutaconic Aciduria (4) 4 Hydroxybutyric Aciduria (1) 4A Syndrome(Adrenocortical Insufficiency, Alacrima, Achalasia,Autonomic)(1) 5 Alpha Reductase Deficiency (1) * 5 Oxoprolinuria (Pyroglutamic Aciduria) (1) 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1) 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) ** ACTH Deficiency (1) AIDS (Acquired Immune Deficiency Syndrome) (6) ** Aarskog Syndrome (8) ** Abdominal Chylous Ascites (abdomen fills w/fluid) (4) Abdominal Migraines (2) Abdominal Teratoma Tumor (5) Abetalipoproteinemia (4) * Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) * Absence of Arm Below Elbow, Congenital (25) * Absence of Arms (Severed in accident) (2) * Absence of Arms, Hands attached to shoulder (1) *
Failure To Thrive - Medcohealth.com 1, ****bassenkornzweig syndrome bassen-kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the http://www.medcohealth.com/medco/consumer/ehealth/ehskeywordsearch.jsp?topicID=F
Retina Australia RP with possible physical abnormality, obesity, kidney disease and mental retardation. bassenkornzweig syndrome. - RP with progressive neurological problems. http://www.retinaaustralia.com.au/AssocConditions.htm
Extractions: USHER SYNDROME This genetic condition causes hearing loss from birth and progressive loss of sight due to retinitis pigmentosa (RP), which causes degeneration of the retina. Often the first symptom of RP is night blindness, followed by narrowing side vision leading to what is called "tunnel vision". In Usher Syndrome Type 1, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life. In Usher Syndrome Type 2, the hearing loss is more variable, ranging from mild to severe. Symptoms of RP usually develop from late adolescence to late twenties. Communication is enhanced in these people with hearing aids and lip reading. LARA'S STORY Lara has been diagnosed with Usher Syndrome Type 2. She is currently Co-ordinator of the Youth Group for Retina Australia Queensland Lara is currently studying meetings and events management, and is planning a career in media, focusing on motivational speaking.
Asia Pacific J Clin Nutr (1992) 1, 249-251 Dische MR, Porro RS. The cardiac lesions in bassenkornzweig syndrome. macular atrophy and acanthocytosis (bassen-kornzweig syndrome). http://elecpress.monash.edu.au/APJCN/Vol1/Num4/14p249.htm
Extractions: CASE STUDY Localized myopathy in a young man with abetalipoproteinaemia-myocardial infarction? M.R. Levinson* FRACP, M.B. Higginbotham** FRACP and S.H. Quarfordt*** MD Department of Medicine, Duke University Medical Center, and Veterans Administration Medical Center, Durham, North Carolina 27710; USA *Assistant Director, Intensive Care Unit. Royal Melbourne Hospital; Recipient of an American Liver Foundation Postdoctoral Fellowship. ***Director. Cooperative Lipid Laboratory. Veterans Administrative Medical Centre. Pluton Street. Durham NC USA 27705. Supported in part by the VA Research Service. Myocardial infarction has not previously been reported as a complication of abetalipoproteinaemia (ABL) We describe a case of probable asymptomatic myocardial infarction in a 24-year-old male with ABL and no previous cardiac history . Electrocardiographic and imaging evidence of the injury is presented.
New MRCOphth MCQs Format: Microbiology D. Wagner s syndrome E. Stickler s syndrome F. BardetBiedl syndrome G. Refsum s disease, H. Friedreich s ataxia I. bassen-kornzweig syndrome J. Usher s http://www.mrcophth.com/finalmrcophthmcqss/36.html
Extractions: (Matching Paper: Retina In response to considerable discussion the Examinations Committee of the College has decided to update the format of the Part 3 MRCOphth Examination from April, 2003. An extended matching paper will replace the existing MCQs and they will be no negative marking. The test will probably be easier than the previous format. To familiarize the candidates with the new formats, test 34 and onward will follow the new style as described below by the College.
Gut -- Abstracts: Scott Et Al. 20 (2): 163 PAPERS. Hypobetalipoproteinaemiaa variant of the bassenkornzweig syndrome. BB Scott, JP Miller and MS Losowsky. A patient is reported http://gut.bmjjournals.com/cgi/content/abstract/20/2/163
Extractions: A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.
Gut -- Table Of Contents (20 [2]) Abstract. Hypobetalipoproteinaemiaa variant of the bassenkornzweig syndrome BB Scott, JP Miller, and MS Losowsky Gut 1979; 20 163-168. Abstract. http://gut.bmjjournals.com/content/vol20/issue2/index.shtml
Extractions: [Search ALL Issues] To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Papers Pure pancreatic juice studies in normal subjects and patients with chronic pancreatitis
´ëÇÑ¿µ»óÀÇÇÐȸ Abetalipoproteinemia, IowaClinic. bassenkornzweig syndrome / About abetaliproteinemia. Alternative Names, Definition, Causes, Incidence And Risk Factors. http://bbs.radiology.or.kr/link/category.asp?ID=D025
THE MERCK MANUAL, Sec. 14, Ch. 179, Disorders Of Movement Abetalipoproteinemia (bassenkornzweig syndrome, vitamin E deficiency) and Refsum s disease (phytanic acid storage diseasesee Ch. http://www.merck.com/mrkshared/mmanual/section14/chapter179/179g.jsp
THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses syndromes. No treatment is required. ABETALIPOPROTEINEMIA (Acanthocytosis; bassenkornzweig syndrome). A rare congenital disorder usually http://www.merck.com/mrkshared/mmanual/section2/chapter16/16a.jsp
Avera Health - Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Prevention High http://www.avera.org/adam/ency/article/001666prv.htm
Avera Health - Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.avera.org/adam/ency/article/001666sym.htm
