Retinitis Pigmentosa SNOF Translate this page qui sont le plus atteints. RP associées à des syndromes générauxSyndrome de bassen-kornzweig. Il s'agit d'une abêtalipoprotéinémie http://www.snof.org/maladies/pigmentaire3.html
Extractions: Coupe histologique de adulte normale (5% des cas) Maladie de Best (1% des cas) Maladie de Stargardt (6% des cas) Drusens familiales dominante Dystrophie de Sorsby Dystrophie maculaire de la Caroline du Nord Pattern dystrophies Dystrophie cristalline de Bietti Syndrome de Stickler (1% des cas) Syndrome de Goldmann-Favre Myopie Albinisme oculaire autres pathologies: et les
Extractions: Temas especiales ... V W X Y Z Enfermedades ... Z Información general Síntomas Tratamiento Abetalipoproteinemia. Es una rara enfermedad congénita, caracterizada por heces grasosas y retraso en el desarrollo infantil. El síndrome de Bassen-Kornzweig es un trastorno congénito raro, que suele transmitirse con carácter autosómico recesivo. A pesar de que el síndrome afecta ambos sexos, predomina en los hombres (70% de los casos). La alteración radica en la incapacidad del organismo para producir lipoproteínas (moléculas de grasa combinadas con proteína ) de los tipos LDL , lipoproteínas de baja densidad y lipoproteínas de muy baja densidad ( VLDL ) y quilomicrones (pequeñas moléculas de grasa presentes en la sangre). Estas sustancias son indispensables para la absorción de grasas. Las personas con este síndrome presentan deterioro en la digestión de este tipo de nutrientes, lo que conduce al desarrollo insuficiente e inapropiado de los nervios (neuropatía), mala coordinación muscular ataxia ) y otros trastornos nerviosos.
Was Ist RP ? bassen-kornzweig-Syndrom(Abetalipoproteinämie); - Refsum-Syndrom. 5.1 Atrophia gyrata. http://www.gsi.de/~schuell/rp/was_f.html
VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE ABERFELD SYNDROOM ABERFELD syndrome. Aberfeld syndrome. ABETALIPOPROTEÏNEMIEABETALIPOPROTEINEMIA BASSEN KORNZWEIG SYNDROOM BASSEN KORNZWEIG syndrome. http://www.vada.nl/medisch/medaab.htm
Journal Of Family Medicine Barrett's and Cancer. Bassen Kornzweig syndrome. Biliary Atresia. Fracturesand Dislocations in Children and Pediatric Bone and Joint Infections. http://www.medical-library.org/j_fammed2.htm
RP - 7.3. Englisches Begriffssystem Der RP 1.2.2.1. conerod dystrophy (CRD). 1.2.2.2. abetalipoproteinemia, Bassen-Kornzweigsyndrome. 1.2.2.3. gyrate atrophy. 1.2.2.4. Refsum's disease, Refsum-syndrome. http://www.fask.uni-mainz.de/user/feuerstein/rp/rp-7.3-2.html
Extractions: retinal degenerative disease s, retinal/tapetoretinal degenerations 1.1. acquired forms macular degeneration s through exogenous factors age-related macular degeneration (AMD) 1.2. retinal/tapetoretinal dystrophies, hereditary retinal degenerations 1.2.1. macular dystrophies cystoid macular edema CME ), "wet" form of macular dystrophy (RCD) cone-rod dystrophy (CRD) abetalipoproteinemia Bassen-Kornzweig syndrome 1.2.2.3. gyrate atrophy Refsum's disease Refsum-syndrome Usher's syndrome , Usher-syndrome (US) 1.2.2.5.1. Usher type I (USH1) 1.2.2.5.1.1. Usher type Ia (USH1a) 1.2.2.5.1.2. Usher type Ib (USH1b) 1.2.2.5.1.3. Usher type Ic (USH1C) 1.2.2.5.2. Usher type II (USH2) 1.2.2.5.2.1. Usher type IIa (USH2A) 1.2.2.5.2.2. Usher type IIb (USH2b) 1.2.2.5.3. Usher type III (USH3) 1.2.2.4. other syndromal forms of RP
Ask AllDoctors Basal Cell Carcinoma Naevus syndrome. See GorlinGoltz syndrome. Bassen-Kornzweigsyndrome. See Wolff-Parkinson-White syndrome. Bat Ears. Bazins Disease. http://www.alldoctors.com.au/ask_doctor/Alb_b/abb_main.asp
Extractions: Back A B C ... Z Baby Colic See Infantile Colic Baby Measles See Roseola Infantum Bacillary Dysentery See Shigellosis Back Diseases See Ileolumbar Syndrome; Intervertebral Disc Prolapse; Kyphoscoliosis; Kyphosis Lordosis Lumbago; ... Posterior Facet Syndrome; Scheuermanns Disease; Sciatica; Scoliosis Spinal Stenosis; Spondylitis Spondylosis ... Spondylolisthesis etc. Bacteraemia Bacterial Conjunctivitis See Conjunctivitis Bacterial Endocarditis See Endocarditis Bacterial Meningitis See Meningitis Bacterial Vaginitis See Vaginitis, Bacterial Bakers Cyst Balanitis Baldness (Male Pattern Baldness) Bard-Pic Syndrome Barlow Syndrome Barmah Forest Virus Barrett Syndrome (Barrett Oesophagitis) Bartholin's Cyst Bartter Syndrome Basal Cell Carcinoma (BCC; Rodent Ulcer) Basal Cell Carcinoma Naevus Syndrome See Gorlin-Goltz Syndrome Bassen-Kornzweig Syndrome See Wolff-Parkinson-White Syndrome Bat Ears Bazins Disease See Erythema Induratum BCC See Basal Cell Carcinoma Beal Syndrome (Contractural Arachnodactyly) Beckers Naevus See Naevus Beckwith-Wiedemann Syndrome Bed Sore (Pressure Ulcer) Bed Wetting (Enuresis) Bee Sting See Sting, Bee or Wasp
Sensory: Large Fiber and Ganglionopathies; Infection Syphilis Tabes dorsalis; HereditaryRecessive syndromes a-b-lipoproteinemia (bassen-kornzweig); http://www.neuro.wustl.edu/neuromuscular/sensory-large.html
Extractions: Front Search Index Links ... cis-platinum Semi-synthetic penicillins Taxol Deficiency/ Malabsorption Vitamin B Vitamin E Immune Large and Small Fiber Neuropathies and Ganglionopathies Infection Syphilis - Tabes dorsalis Hereditary Recessive syndromes a- b -lipoproteinemia (Bassen-Kornzweig) Ataxia Telangectasia
MSN Health - Abetalipoproteinemia Discussion Board. Abetalipoproteinemia (BassenKornzweigSyndrome) Abetalipoproteinemia Discussion Board Online. Founded 2001. http://content.health.msn.com/NR/internal.asp?GUID={1A47F7DF-61DA-4B43-8DBC-596A
Inheritance Of Retinal Degeneration - Page 1 The Inheritance of Retinal Degenerations. Note This document was written by JillHennessey and Janet GloverKerkvliet and graphics created by Tim Phelps. http://www.jwen.com/rp/ffb/ffb1.html
Extractions: You or a relative have a retinal degenerative disease like retinitis pigmentosa (RP) or macular degeneration. Understandably you are concerned about the severity of the disease and the possible loss of sight. In addition the ophthalmologist has said that is an inherited disease and that there is a risk that other family members may be affected. Now is the time to consult with an ophthalmologist trained in genetics with medical geneticist or with a genetic counselor. Only after a thorough review of your family history can the risk for other family members be assessed. The information found in this web page cannot replace genetic counseling; Genetic counseling is provided only by trained professionals in a medical setting. Rather, you can use this web page to help prepare for the counseling session and you can refer to it after counseling to help you remember what was discussed.
MUMS List Of Disorders - B Basal Encephalocele (1); Basal Ganglia Infarction (1); BassenKornzweigSyndrome (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
Acanthocytosis l Three different neurological syndromes 1. Abetalipoproteinemia (BassenKornzweigsyndrome) (1950), familial hypobetalipoproteinemia. http://www.cgmh.org.tw/intr/intr2/c337a/Academic/case_report/Acanthocytosis.file
Extractions: l Acanthocytes: Erythrocytes with changed morphology bearing spicules of variable length and breadth. l First recognition: Bassen and Kornzweig (1950): inherited abetalipoproteinaemia l Three different neurological syndromes: Abetalipoproteinemia (Bassen-Kornzweig syndrome) (1950), familial hypobetalipoproteinemia HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) Choreoacanthocytosis (Neuroacanthocytosis) (Levine-Critchley syndrome)(1967-1968) Often involving the mouth and severe enough to result in mutilation. Synonyms: familial amyotrophic chorea with acanthocytosis, familial neuroacanthocytosis. McLeod syndrome