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         Amyoplasia Congenita:     more detail

41. Browsing Health Conditions And Diseases A Category
Alstrom Syndrome Alternating Hemiplegia Altitude Sickkness Altophobia Alzheimer'sAmblyopia Amputee Amyloidosis amyoplasia congenita Amyotrophic Lateral
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42. Katalog Health Conditions_and_Diseases A - Netz-Tipp.
Amputee (*). Amyloidosis (*); amyoplasia congenita (*); Amyotrophic
http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/A/

43. Arthrogrypose Congénitale Multiple
Translate this page dystrophie musculaire. En anglais amyoplasia congenita. Terme issude arthron articulations, et de grupos recourbé. Synonymes
http://www.vulgaris-medical.com/texta/arthrogr.htm
Arthrogrypose voir également aberration chromosomique, dystrophie musculaire. En anglais : amyoplasia congenita Terme issu de arthron : articulations, et de grupos : recourbé. Synonymes : myodystrophie fœtale déformante, amyoplasie congénitale, raideur articulaire congénitale, myodysplasie ou myodystrophie constitutionnelle (désuètes) Syndrome (ensemble de signes) congénital (existant à la naissance) et apparaissant parfois dès la grossesse, se caractérisant par des raideurs multiples des articulations, plus ou moins symétriques et le plus souvent en flexion (fermeture). On estime sa fréquence à 1 pour 3000 naissances. Symptômes
  • Fixation de certaines articulations (articulations des extrémités le plus souvent) : mains, poignets, pieds, chevilles avec limitation des mouvements. Déformation des articulations : pied bot entre autres Atteinte associée du système nerveux (appareil locomoteur...). Le tronc est généralement épargné Installation d’un cercle vicieux : la non-utilisation des articulations entraîne la limitation des mouvements qui entraîne la non-utilisation des articulations, ...
Diagnostic Le diagnostic est fait à la naissance et parfois pendant la grossesse grâce à l'échographie (dernier trimestre de grossesse). L’accouchement est parfois difficile dans certains cas.

44. Medicine Arena - Journal Resources
CJ Törnhage; E Stuge; T Lindberg; F Serenius. amyoplasia congenita and intestinalatresia a common etiology, p1405. MU Shenoy; N Marlow; RJ Stewart.
http://rudolfo.ingentaselect.com/vl=1/cl=7/ini=medarena/nw=1/rpsv/cw/www/tandf/a
Acta Paediatrica
View all issues Search this title
Volume 88 Number 12 1999 Pain management in neonates BA Larsson Factors associated with the duration of breastfeeding may depend on the extent to which mothers of young children are employed T Greiner The rationale for iron-fortified follow-on formulas and growing-up milks F Haschke What is the role of nucleotides and polyamines in breast milk? WA Walker Transmission of primary nocturnal enuresis and attention deficit hyperactivity disorder Severe sleep problems among infants NJ Blum Factors associated with the duration of breastfeeding A Vogel; BL Hutchison; EA Mitchell Duration of breastfeeding and developmental milestones during the latter half of infancy Iron status of children in southern Sweden: effects of cow's milk and follow-on formula A-C Bramhagen; I Axelsson Nucleotide and polyamine levels in colostrum and mature milk in relation to maternal atopy and atopic development in the children Effect of age on cerebrospinal fluid levels of metabolites of biopterin and biogenic amines H Komori; T Matsuishi; S Yamada; N Ueda; Y Yamashita; H Kato

45. Arthrogryposis From Pediatrics / Genetics And Metabolic Disease
Murray C, Fixsen JA Management of knee deformity in classical arthrogryposismultiplex congenita (amyoplasia congenita). J Pediatr
http://author.emedicine.com/PED/topic142.htm
eMedicine Journal Pediatrics Genetics And Metabolic Disease
Arthrogryposis
Synonyms, Key Words, and Related Terms: arthrogryposis multiplex congenita, multiple congenital contractures, multiple congenital joint contractures Author Information Introduction Clinical Differentials ... Bibliography
AUTHOR INFORMATION Section 1 of 12 Authored by Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Edited by James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Hagop Youssoufian, MSc, MD

46. DINO - Language: Englisch - Health - Conditions And Diseases - A
Dieser Link verweist auf eine HauptKategorie Amyloidosis Dieser Link verweist aufeine Haupt-Kategorie amyoplasia congenita Dieser Link verweist auf eine Haupt
http://www.dino-online.de/dino_page_962b3613efa824c8055b17d0f8c114e0.html
Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher?
You are here: DINO Language Englisch Health ... Conditions and Diseases A A Sprache/Language
Categories Aarskog Syndrome
Aase Syndrome
Abdominal Migraine
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Achilles Tendonitis
Achondroplasia
Achromatopsia
Acid Maltase Deficiency Disease Acoustic Neuroma Acrodynia Acromegaly Activated Protein C Resistance Acute Idiopathic Polyneuritis ADD and ADHD Addiction and Recovery Addison's Disease Adie Syndrome Adiposis Dolorosa Adjustment Disorders Adrenoleukodystrophy Agnosia Agoraphobia Aicardi Syndrome AIDS Dementia Complex Akinetic Mutism Alagille Syndrome Albinism Alcohol Induced Neurotoxicity Syndromes Alcoholism Alexander Disease Alkaptonuria Allergies Alopecia Alpers' Disease Alpha-1 Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia Altitude Sickkness Altophobia Alzheimer's Amblyopia Amputee Amyloidosis Amyoplasia Congenita Amyotrophic Lateral Sclerosis Anal Cancer Anal Fissures Anemia Anencephaly Aneurysm Angina Pectoris Anophthalmos Anorexia Anosmia Anterior Knee Pain Syndrome Anthrax Antisocial Anus Neoplasms Anxiety Aortic Valve Disease Apert Syndrome Aphasia Aplastic Anemia Apnea, Sleep

47. DR G
1996;37(2)125134. 47. Jeffries I, Acevedo C, Grossman JAI, Alfonso DT, AlfonsoI. Pictorial review amyoplasia congenita. Int Pediatr. 1996;11(6)375-377.
http://www.brachialplexusmd.com/LORNAC_1/JAIG-C_1/body_jaig-c_1.HTM
John A. I. Grossman MD OFFICE ADDRESS: 8940 N. Kendall Drive, Suite 904, Miami, FL 33243 MAILING ADDRESS: P.O. Box 43-0942, Miami, FL 33243 TELEPHONE: FACSIMILE: E-MAIL: jaig@handandnervespecialist.com EDUCATION: 1973 A.B. Middle East Studies Senior Fellow Dartmouth College 1978 M.D. University of Virginia School of Medicine POSTDOCTORAL TRAINING: 1978-79 ResidentDepartment of Surgery George Washington University Medical Center 1979-81 ResidentDepartment of Surgery Cleveland Clinic Foundation 1981-82 Senior Resident Department of Surgery Massachusetts General Hospital Shriner’s Burn Institute 1982-83 Hand Fellow French Hand Institute (Dr. Raoul Tubiana)

48. Contact A Family
Diseases Alymphocytosis see Primary Immune Deficiencies Amyloidosis see MetabolicDiseases amyoplasia congenita see Arthrogryposis Amyotrophic Lateral
http://www.fmo.easynetonline.net/anciensite/listcaf.html
Retour
Liste Contact A Family
2 Hydroxglutaric Aciduria see Metabolic Diseases
4 Hydroxybutyric Aciduria see Metabolic Diseases
2-Methylacetoacetyl-CoA Thiolase Deficiency see Metabolic Diseases
3-Hydroxy Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases
3-Hydroxy-Methylglutaril CoA Lyase Deficiency see Organic Acidaemias
3-Methylglutaconic Aciduria see Metabolic Diseases
4p-Syndrome see Wolf-Hirschhorn Syndrome
5 Alpha Reductase Deficiency see Metabolic Diseases
5-Oxoprolinuria see Metabolic Diseases 21 Hydroxylase Deficiency see Congenital Adrenal Hyperplasia aAA see Acquired Aplastic Anaemia ADA see Primary Immune Deficiencies ADD see Attention Deficit Hyperactivity Disorder ADHD see Attention Deficit Hyperactivity Disorder ADL see Adrenoleukodystrophy AIDS see HIV Infection and AIDS AMC see Arthrogryposis ASD see Heart Defects ATR-X see Alpha Thalassaemia/Mental Retardation on the X Chromosome Abdominal Exstrophies Abetalipoproteinaemia see Metabolic Diseases Achondroplasia see Restricted Growth Acne Acne Vulgaris see Acne Acquired Aplastic Anaemia Acrodermatitis Enteropathica see Metabolic Diseases Acrofacial dysostosis see Nager Syndrome Adams-Oliver Syndrome Addison Disease Adenosine Deaminase Deficiency see Primary Immune Deficiencies Adipogenital Retinitis Pigmentosa-Polydactyly see Laurence-Moon-Bardet-Biedl Syndrome Adrenal Hyperplasia see Congenital Adrenal Hyperplasia Adrenal Hypoplasia see Addison Disease Adrenoleukodystrophy

49. D Lindhout Publications
Neuropediatrics 1987;184550. 17. Lindhout D, Hageman G. amyoplasia congenita-likecondition and maternal malathion exposure. Teratology 1987;367-9. 18.
http://humgen.med.ruu.nl/addresses/people/curriculum/Lindhout pubs.html
Publications by D. Lindhout, M.D., Ph.D. CONTENTS I Articles in international peer-reviewed scientific journals II Articles in Dutch peer-reviewed journals III Chapters in books (English) IV Chapters in books (Dutch) ... VI Educational articles last updated October 2002
I Articles in international peer-reviewed scientific journals
1. Lindhout D, Barth PG, Valk J, Boen-Tan TN.
The Joubert syndrome associated with bilateral chorioretinal coloboma.
Eur J Pediatr 1980;134:173-176. 2. Lindhout D.
The Joubert syndrome associated with bilateral chorioretinal coloboma (letter).
Eur J Pediatr 1981;137:101-102. 3. Lindhout D, Meinardi H.
False-negative pregnancy test in women taking carbamazepine (letter)
Lancet 1982;ii:505. 4. Heimans JJ, Lindhout D, Huisman UW, Kwee ML, Visser SL, Whitton HW.
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease.
Clin Neurol Neurosurg 1982;84:147-158. 5. Kwee ML, Lindhout D.
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?
Clin Genet 1983;24:200-205.

50. Arthrogryposis Multiplex Congenital (codes) Amyoplasia Congenita
Name ARTHROGRYPOSIS MULTIPLEX CONGENITA Included diseases and their Synonymsarthrogryposis multiplex congenital (codes), amyoplasia congenita (codes).
http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=31

51. PubMed Medline Query
91. Management of knee deformity in classical arthrogryposis multiplexcongenita (amyoplasia congenita). Murray C, Fixsen JA. Orthopaedic
http://www.sonnet.com/avenues/medl9798.html
Medline Abstracts, Arthrogryposis, 1997-98
Clin Genet 1998 Sep;54(3):224-30
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25>qter deletion.
Lukusa T, Devriendt K, Holvoet M, Fryns JP
Center for Human Genetics, University Hospital of Leuven, Belgium. We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25>qter monosomy. PMID: 9788726, UI: 99002775
Fetal Diagn Ther 1998 Jul;13(4):244-249
Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis. a case report and review.
Vardon D, Chau C, Sigodi S, Figarella-Branger D, Boubli L

52. National Marfan Foundation: Diagnosis And Management Of Infantile Marfan Syndrom
29. Reeve R, Silver HK, Ferrier P. Marfan's syndrome (arachnodactyly) with arthrogryposis(amyoplasia congenita). Am J Dis Child. 1960;99101106. 30. Ross LJ.
http://www.marfan.org/pub/resourcebook/infantile.html
Reprinted by permission from PEDIATRACS, Vol. 86, Number 6, December, 1990
Diagnosis and Management of Infantile Marfan Syndrome
Richard P. Morse, MD; Sol Rockenmacher, MD;
Reed E. Pyeritz, MD, PhD; Stephen P. Sanders, MD;
Frederick R. Bieber, PhD; Angela Lin, MD; Patrick MacLeod, MD;
Bryan Hall, MD; and John M. Graham Jr, MD, ScD
From the Department of Maternal and Child Health, Mary Hitchcock Memorial Hospital, Hanover, New Hampshire; the Departments of Medicine and Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland; the Department of Cardiology, Children's Hospital, Boston, Massachusetts; the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; the Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania; the Department of Pediatrics, Queen's University, Kingston, Ontario, Canada; the Department of Pediatrics, Division of Genetics/ Dysmorphology, University of Kentucky, Lexington, Kentucky; and the Medical Genetics- Birth Defects Center, Ahmanson Pediatric Center, Cedars-Sinai Medical Center, University of California Los Angeles School of Medicine, Los Angeles
ABSTRACT.

53. Judith G. Hall (www.whonamedit.com)
amyoplasia twinning in amyoplasiaa specific type of arthrogryposis with an JGHall Arthrogryposis multiplex congenita etiology, genetics, classification
http://www.whonamedit.com/doctor.cfm/533.html

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Judith G. Hall
American human geneticist, born July 3, 1939, Boston.
Associated eponyms:
Hall type of pseudoachondroplasia

A disturbance characterised by severe dwarfism, limb shortening and variable spinal alignment. Hall-Pallister syndrome Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. Biography: On her Internet site, Judith G. Hall presents herself: I am a clinical geneticist primarily interested in congenital anomalies, genetics of short stature, and connective tissue abnormalities, with a particular interest in the natural history and clinical heterogeneity of these disorders. I have worked extensively on arthrogryposis, various types of dwarfism, Turner syndrome, neural tube defects, and syndrome identification. Since nontraditional patterns of inheritance are seen in many congenital anomalies, I am also involved in defining mosacism, genomic imprinting, parent of origin affects, and mechanisms of disease. My work has involved collaborations with lay groups for specific disease entities and involves explaining and counselling about the consequences of the available care options. It also has involved the development of guidelines for the care of common disorders, such as achondroplasia and Turner syndrome. Judith G. Hall attended the University of Washington, Seattle, where she obtained a master of science degree and qualified in medicine in 1966. While s student she spent a year in the medical. genetics department with professor Victor Almon McKusick (1921-), considered the founder of modern medical genetics, and himself associated with no less than seven eponyms.

54. Arthrogryposis Multiplex Congenita
arthrogryposis multiplex congenita. In 1983, Hall and colleagues named the most common type of the disease amyoplasia.
http://www.ortho.hyperguides.com/Tutorials/pediatric_ort/Arthrogryposis/tutorial
window.location="http://www.ortho.hyperguides.com/";
Arthrogryposis Multiplex Congenita Nigel W. Sparks, MD

Background and Diagnosis
Arthrogryposis multiplex congenita is a nonprogressive disease that consists of two or more different joint contractures present at birth. There are more than 150 different conditions that are classified under the term arthrogryposis. Causes of arthrogryposis may include abnormalities of muscle, nerve, connective tissue, or limitation of movement in utero. The majority of this tutorial will focus on the most common form of arthrogryposis, amyoplasia. Other disorders in the arthrogrypotic syndromes include Larson’s syndrome, distal arthrogryposis syndrome, and multiple pterygium syndrome. In 1841, Adolf Wilhelm Otto named the disease congenital myodystrophy. He described the patient as a "human wonder with curved limbs." In 1923, Stern coined the term arthrogryposis multiplex congenita. In 1983, Hall and colleagues named the most common type of the disease amyoplasia. Amyoplasia consists of multiple joint contractures, which are symmetrical in positioning of the limbs. The etiology does not have a genetic basis but is sporadic in nature. There have been reports of epidemics in the 1960s in areas of eastern Europe and Great Britain. There seems to be an association with a decrease of anterior horn cells and other neural elements of the spinal cord. There is also a questionable relationship to oligohydramnios.

55. Arthrogryposis Multiplex Congenita
limbs. In 1923, Stern coined the term arthrogryposis multiplex congenita. In 1983,Hall and colleagues named the most common type of the disease amyoplasia.
http://ortho.hyperguides.com/Tutorials/pediatric_ort/Arthrogryposis/tutorial.asp
window.location="http://www.ortho.hyperguides.com/";
Arthrogryposis Multiplex Congenita Nigel W. Sparks, MD

Background and Diagnosis
Arthrogryposis multiplex congenita is a nonprogressive disease that consists of two or more different joint contractures present at birth. There are more than 150 different conditions that are classified under the term arthrogryposis. Causes of arthrogryposis may include abnormalities of muscle, nerve, connective tissue, or limitation of movement in utero. The majority of this tutorial will focus on the most common form of arthrogryposis, amyoplasia. Other disorders in the arthrogrypotic syndromes include Larson’s syndrome, distal arthrogryposis syndrome, and multiple pterygium syndrome. In 1841, Adolf Wilhelm Otto named the disease congenital myodystrophy. He described the patient as a "human wonder with curved limbs." In 1923, Stern coined the term arthrogryposis multiplex congenita. In 1983, Hall and colleagues named the most common type of the disease amyoplasia. Amyoplasia consists of multiple joint contractures, which are symmetrical in positioning of the limbs. The etiology does not have a genetic basis but is sporadic in nature. There have been reports of epidemics in the 1960s in areas of eastern Europe and Great Britain. There seems to be an association with a decrease of anterior horn cells and other neural elements of the spinal cord. There is also a questionable relationship to oligohydramnios.

56. Arthrogryposis Multiplex Congenita
Discussion. Twentyfive percent of patients born with amyoplasia will have fracturesof some type at birth. amyoplasia A common form of arthrogryposis.
http://ortho.hyperguides.com/Tutorials/pediatric_ort/Arthrogryposis/answers.asp?

57. Links To Other Arthrogryposis Resources
Arthrogryposis amyoplasia. Arthrogryposis Multiplex congenita - if you are lookingfor on-line support and information, then I highly recommend you start with
http://www.amc-info.org/links.htm

58. More About Arthrogryposis
by fat and fibrous tissue. amyoplasia is the most common form of ArthrogryposisMultiplex congenita. The true cause is still unknown
http://www.amc-info.org/info.htm

59. Dorlands Medical Dictionary
amyoplasia conge¢nita, a generalized lack of muscular development and growth calledcongenital multiple arthrogryposis and arthrogryposis multiplex congenita.
http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

60. Wheeless' Textbook Of Orthopaedics
Arthrogryposis Multiplex congenita (amyoplasia). Discussion - musculoskeletaldz is characterized by congenital immobility of multiple joints.
http://www.ortho-u.net/o12/110.htm
Main Menu Home Page
Arthrogryposis Multiplex Congenita: (Amyoplasia)
- Discussion: - Clinical Presentation: - affected patients typically have normal facies, normal intelligence, multiple joint contractures, and no viceral abnormalities; - distal joints are usually affected more severely; - classic arthrogrypotic deformities are present at birth; - note that it is common for newborns to display mild elbow contractures, which should not be confused with arthrogryposis; - Joint motion limitation in newborns. MM Hoffer. CORR. Vol 148. 1980. p 94-96. - diff dx: myelomeningocele ; - moebius syndrome; - larsen's sydndrome (multiple joint dislocations, esp knees); - Pena Shokeir syndrome (growth deficiency, unusual facial features, multiple ankylosis; - camptodactyly (when only a finger is involved); - talipes equinovarus; - congenital myasthenia gravis; - whistling face syndrome; - Initial Workup: - evaluation should include neurologic studies, enzymes tests, and muscle biopsy (at 3-4 months); -

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