81. GASNet Anesthesiology: Contents A - C Guillain Barré syndrome. Bartter. Bartter syndrome. Bassen. Bassen - Kornzweigsyndrome. Beckwith. Beckwith - Wiedemann syndrome. Behçet. Behçet syndrome. Blackfan. http://gasnet.med.yale.edu/pediatric-syndromes/a2c_br.php

Contents A - C - pediatric syndromes - Acidosis Fanconi's Syndrome (Renal Tubular Acidosis) Albers Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Albright Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Albright McCune - Albright Syndrome Aldrich Wiskott - Aldrich Alström Alström Syndrome Analbumenia Analbumenia Analphalipoproteinemia Tangier Disease (Analphalipoproteinemia) Andersen Andersen Disease (Glycogen Storage Disease Type IV) Anderson Anderson Syndrome Angelman Angelman's Syndrome Angioneurotic Hereditary Angioneurotic Edema Angioosteohypertrophy Klippel - Trenaunay Syndrome (Angioosteohypertrophy) Anhydrotic Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Apert Apert Syndrome Arnold Arnold - Chiari Malformation Arthogryposis Arthogryposis Multiplex Congenita Asphyxiating Jeune's Syndrome (Asphyxiating Thoracic Dystrophy) Ataxia Ataxia - Telangiectasia Ataxia Friedreich's Ataxia Auricular Goldenhar Syndrome (Auriculo Vertebral Syndrome) Bardet Bardet - Biedl Syndrome Barré Guillain - Barré Syndrome Bartter Bartter Syndrome Bassen Bassen - Kornzweig Syndrome Beckwith Beckwith - Wiedemann Syndrome Behçet Behçet Syndrome Blackfan Blackfan - Diamond Syndrome Biedl Bardet - Biedl Syndrome Biedl Lawrence - Moon - Biedl Syndrome Bloch Bloch - Sulzberger Syndrome Bowen Bowen Syndrome (Cerebrohepatorenal Syndrome) Bullae Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) Butler Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Carpenter Carpenter Syndrome Central Core

82. 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

Accueil Annonces Art Histoire ... Homepage Retinitis pigmentosa Rev 08-02-2003 jmm Coupe histologique de adulte normale Syndrome de Bassen-Kornzweig Syndrome de Refsum Syndrome d'Usher (12% des cas) Syndrome de Kearns-Sayre Mucopolysaccharidoses Syndrome de Bardet-Biedl Syndrome de Laurence-Moon Ataxie de Friedreich Myopathie de Duchenne Maladie d'Oguchi Fundus albipunctatus cum hemeralopia de Lauber (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: NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) Syndrome de Senior-Loken Syndrome de Cokraine Syndrome de Boor et les Transmission: Les cas sporadiques Les 55% de cas familiaux Dominants autosomiques 20 % Formes atypiques de RP cone-rod dystrophy " quand l'atteinte des rod-cone dystrophy " quand ce sont les qui sont le plus atteints.

83. Síndrome De Bassen-Kornzweig - Información General Translate this page Síndrome de bassen-kornzweig - Información general. http://pcs.adam.com/ency/article/001666.htm

Regresar a " - " Partes del cuerpo Enfermedades Lesiones Envenenamiento Temas especiales ... V W X Y Z Enfermedades ... Z Síndrome de Bassen-Kornzweig - Información general Información general Síntomas Tratamiento Nombres alternativos: Abetalipoproteinemia. Definición: Es una rara enfermedad congénita, caracterizada por heces grasosas y retraso en el desarrollo infantil. Causas, incidencia y factores de riesgo: 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.

84. Was Ist RP ? bassen-kornzweig-Syndrom(Abetalipoproteinämie); - Refsum-Syndrom. 5.1 Atrophia gyrata. http://www.gsi.de/~schuell/rp/was_f.html

85. 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

VADA - GEZONDHEID en ZIEKTE HEALTH and DISEASE AA - AB OPGELET - ATTENTION Patienten en leken die raadgevingen/adviezen/informatie zoeken via deze verzameling links wordt dringend geadviseerd de verzamelde informatie te bespreken met de (behandelend) arts/specialist/hulpverlener. Patients and lay persons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. AAMBEIEN HAEMORRHOIDEN HEMORRHOIDS ANTIHAEMORRHOIDALS See also: GASTROINTESTINAL DISEASES Ziektebeeld: Aambeien Aambeien Wat kunt u er zelf aan doen? Haemorrhoiden (Aambeien) Hemorrhoids Hemorrhoids (for patients) About Hemorrhoids and Other Anorectal Problems ... Hemorrhoids AANDACHTSTOORNISSEN CONCENTRATIESTOORNISSEN CONCENTRATION DISORDERS See also: COGNITIEVE STOORNISSEN COGNITIVE DISORDERS See also: LEER- en ONTWIKKELINGSSTOORNISSEN DEVELOPMENTAL DISORDERS LEARNING DISABILITIES See also: AANDACHTSTEKORTSTOORNIS met HYPERACTIVITEIT HYPERACTIVITEIT ATTENTION DEFICIT HYPERACTIVITY DISORDERS ADHD ATTENTION DEFICIT DISORDERS ADD MINIMAL BRAIN DAMAGE MINIMAL BRAIN DYSFUNCTION MBD HYPERKINETIC DISORDER of CHILDHOOD See also: DEVELOPMENTAL COORDINATION DISORDER DCD See also: PERVASIEVE ONTWIKKELINGSSTOORNISSEN PERVASIVE DEVELOPMENTAL DISORDER PDD PDD-NOS AAN AUTISME VERWANTE GEDRAGSSTOORNISSEN PERVASIEVE ONTWIKKELINGSSTOORNIS (Niet Anders Omschreven) PERVASIVE DEVELOPMENTAL DISORDER (Not Otherwise Specified) See also:

86. Search By Disease 20 Bartter syndrome. 21 Basal cell nevus syndrome (BCNS). 22 BassenKornzweigsyndrome. 23 Batten disease. 24 BBB syndrome. 25 Beals syndrome. http://www.eddnal.com/directory/disease.php?letter=B&page=2

87. 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

A Journal of Current Medical Treatment for Family Medicine March Volume 23126, Number 23, pp 2122-2387 Contents of the Current Issue General Medicine New Treatments Bell's Palsy Erythromelalgia Legg-Calve-Perthes Disease Drug and Alcohol Addiction ... Thyroid Disease New Topics in Family Medicine Prostatic Hyperplasia, Impotency and Male Infertility Street Drugs Cancer Pain Acid Base and Blood Gas Analysis ... Rheumatic Syndromes Advances in Gynecology Abnormal Uterine Bleeding Infertility Management of the Abnormal Pap Smear and Colposcopy Continuing Medical Education Antenatal Fetal Assessment Polyarticular Diseases - Rheumatoid Arthritis Low Back Problems Selective Mutism ... Notices

88. 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

7.3. Englisches Begriffssystem der RP 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 degeneration 1.2.2. retinitis pigmentosa (RP), pigment retinopathy , rod-cone 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

89. Ask AllDoctors Basal Cell Carcinoma Naevus syndrome. See GorlinGoltz syndrome. Bassen-Kornzweigsyndrome. See Wolff-Parkinson-White syndrome. Bat Ears. Bazin’s Disease. http://www.alldoctors.com.au/ask_doctor/Alb_b/abb_main.asp

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; Scheuermann’s 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 Baker’s 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 Bazin’s Disease See Erythema Induratum BCC See Basal Cell Carcinoma Beal Syndrome (Contractural Arachnodactyly) Becker’s Naevus See Naevus Beckwith-Wiedemann Syndrome Bed Sore (Pressure Ulcer) Bed Wetting (Enuresis) Bee Sting See Sting, Bee or Wasp

90. 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

Front Search Index Links ... cis-platinum Semi-synthetic penicillins Taxol Deficiency/ Malabsorption Vitamin B Vitamin E Immune GALOP Syndrome Anti-MAG antibody syndrome Miller Fisher Syndrome Anti-GD1b antibody syndrome ... Hu (Paraneoplastic); Idiopathic Large and Small Fiber Neuropathies and Ganglionopathies Infection Syphilis - Tabes dorsalis Hereditary Recessive syndromes a- b -lipoproteinemia (Bassen-Kornzweig) Ataxia Telangectasia l ATM (phosphatidylinositol-3'-kinase); Chromosome 11; Recessive Friedreich's Ataxia l Frataxin; Chromosome 9q13-q21.1; Recessive Mitochondrial Dominant syndromes Sensory ataxic neuropathy Posterior column ataxia (Biemond) Mitochondrial Sporadic Sensory ataxic neuropathy l Autosomal Dominant Clinical features Onset: After 4th decade Sensory Ataxia Strength: Normal Reflexes: Reduced or absent in legs Eyes: Square wave jerks Laboratory Nerve conduction: Reduced sensory potential amplitudes; Normal velocities Pathology: Loss of myelinated axons Posterior column ataxia (Biemond) l Autosomal Dominant Clinical features Onset: 19 to 40 years Large fiber sensory loss l Autosomal Dominant Clinical features Sensory ataxia Return to Polyneuropathy Index Return to Neuromuscular Home Page

91. 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

92. 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

The Inheritance of Retinal Degenerations Foundation Fighting Blindness and is available from them in written, audio and braille form. Go to Main RP Page Table of Contents Page 1 Introduction Page 2 Basic Genetics ... Page 4 Inheritance Patterns (continued) Autosomal Recessive Page 5 Inheritance Patterns (continued) X-Linked Page 6 Inheritance Patterns (continued) Digenic Page 7 Inheritance Patterns (continued) Isolated Cases Retinal Degenerative Diseases Bardet-Biedl Syndrome Bassen-Kornzweig Syndrome ... Glossary Introduction 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.

93. DSHI Systems - Medical Glossary PAIR; BASEDOW'S DISEASE; BASILAR ARTERY; BASILAR MIGRAINE; BASSENKORNZWEIGSYNDROME; BATHING TRUNK NEVUS; BATTLE'S SIGN; BCG VACCINE; BECKER'S http://www.mymedadvice.com/html/B_list.htm

B AND T CELL COUNTS B AND T CELL SCREEN B CELL LEUKEMIA/LYMPHOMA PANEL B LYMPHOCYTE SURFACE MARKERS B AND T CELL COUNTS B AND T CELL SCREEN B CELL LEUKEMIA/LYMPHOMA PANEL B LYMPHOCYTE SURFACE MARKERS ... BYSSINOSIS

94. 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

Return to MUMS Home Page MUMS: List of Disorders B Number in parentheses indicates number of matches. 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

95. 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

Reported by Neuroacanthocytosis 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 McLeod phenotype: weak expression of the antigens of the Kell blood group system. CK: 1000-2500 IU/L Benigh X-linked myopathy Other sporadic association with acanthocytes: Hallervorden-Spatz Disease: impairment of gait resulting from rigidity of legs and feet deformity and mental deterioration with juvenile onset. Neuroacanthocytosis (Choreoacanthocytosis) l Corea + acanthocytosis: Critchley et al., 1967;

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