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         Amyoplasia Congenita:     more detail

1. JIMA - Issue - Vol 100 No 05, May, 2002
amyoplasia congenita is a rare congenital disorder. It was diagnosed as a case of amyoplasia congenita along with a right sided inguinal hernia.
http://www.jimaonline.org/May2002/casenotes2_01.htm
May 2002
Central theme: Epilepsy
Table of Contents
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Case Notes
Amyoplasia Congenita
Nilesh Banker
Intro
Case Report

Discussion

Acknowledgement

References
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Authors
Amyoplasia congenita is a rare congenital disorder. Here such a case along with right sided inguinal hernia in 3-day-old male baby is presented with a brief review of literature. A 3-day-old male baby was presented with multiple bony deformities with right sided inguinoscrotal swelling since birth. It was diagnosed as a case of amyoplasia congenita along with a right sided inguinal hernia. The baby was managed with physiotherapy and right sided herniorrhaphy was done at 2 months and 2 days of age.
Keywords Amyoplasia congenita, arthrogryposis multiplex congenita, bony anomaly, inguinal hernia.
Amyoplasia congenita is a rare congenital disorder. It is a major form of arthrogryposis multiplex congenita (AMC)1,2. The entity refers to multiple contractures of joints which are fixed in flexion or less commonly in extension, accompanied by diminution and wasting of skeletal muscles3. Many children of this disorder survive but some die during infancy. One such case with multiple deformities is presented. Home
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2. SupportPath.com: Arthrogryposis Multiplex Congenita
SupportPath.com leads you to Internet resources for supportrelated information on hundreds of health, personal, and relationship topics. Arthrogryposis Multiplex Congenita. Also called AMC, amyoplasia congenita. Other topics of interest on SupportPath.com
http://www.supportpath.com/sl_a/arthrogryposis_multiplex_congenita.htm
Arthrogryposis Multiplex Congenita
Also called: AMC, Amyoplasia Congenita Other topics of interest on SupportPath.com:
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3. Guérin-Stern Syndrome (www.whonamedit.com)
amyoplasia congenita, arthrogryposis multiplex congenita, arthrogryposis syndrome, arthromyodysplasia congenita pterygium universalis, pterygoarthromyodysplasia congenita
http://www.whonamedit.com/synd.cfm/1357.html

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This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
Guérin-Stern syndrome Also known as:
Otto's syndrome
Rocher-Sheldon syndrome Rossi's syndrome Synonyms: Amyoplasia congenita, arthrogryposis multiplex congenita, arthrogryposis syndrome, arthromyodysplasia congenita, congenital arthromyoplastic syndrome, congenital articular rigidity, congenital contractures of extremities, multiple congenital articular rigidity, multiple congenital contractures, myodysplasia fibrosa multiplex, myodysplasia fetalis deformans, myodystrophia fetalis deformans, neuro-arthromyodysplasia, pterygium universalis, pterygo-arthromyodysplasia congenita. Associated persons: Jules René Guérin Adolph Wilhelm Otto Henri Gaston Louis Rocher Ettore Rossi ... Walter G. Stern

4. Arthrogryposis Multiplex Congenita (AMC)
Syndrome. arthrogryposis multiplex congenita (AMC) Synonyms. GuérinStern syndrome Rossi syndrome. amyoplasia congenita. congenital arthromyodysplastic syndrome
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome039.html
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
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Syndrome arthrogryposis multiplex congenita (AMC) Synonyms Guérin-Stern syndrome Otto syndrome Rocher-Sheldon syndrome Rossi syndrome amyoplasia congenita congenital arthromyodysplastic syndrome congenital articular rigidity congenital contractures of extremities multiple congenital articular rigidity multiple congenital contractures myodysplasia fibrosa multiplex myodysplasia foetalis deformans myodystrophia foetalis deformans neuro-arthromyodysplasia pterygium universale pterygo-arthromyodysplasia congenita Summary Major Features Head and neck: Facial asymmetry, micrognathia, immobile facies, notched chin, and malar hypoplasia. Ears: Low-set ears posteriorly angulated ears, and overfolded helices. Eyes: Keratoconus, downslanting palpebral fissures, blepharoptosis, hypertelorism, ophthalmoplegia, and retinopathy. Nose: High nasal bridge. Mouth and oral structures: Highly arched palate, cleft lip, cleft palate, and trismus. Neck: Short neck, fused cervical vertebral, and pterygia.

5. Arthrogryposis Multiplex Congenita
P Arthrogryposis Multiplex Congenita. National Library of Medicine syndrome Rossi syndrome amyoplasia congenita Congenital arthromyodysplastic syndrome Congenital
http://www.ibis-birthdefects.org/start/arth.htm
Arthrogryposis Multiplex Congenita
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... Etchings Notice! The theme of this page is beyond the scope of the mission of I.B.I.S. The links shown below are highly selected and of limited scope. AMC Artrogriposis Arthrogryposis Arthrogryposis Multiplex Congenita Congenital Articular Rigidity Congenital Contractures Multiple Congenital Contractures
Special Resources Arthrogryposis Multiplex Congenita
A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Groups [Dutch] [Flemish] [German] [Spanish] [Ukrainian] [*][P] Arthrogryposis Multiplex Congenita Arthrogryposis Arthrogryposis What is it? ... From the Greek literally means "curved or hooked joints." … Used to describe multiple joint contractures present at birth. There are many causes for congenital multiple joint contractures, … The commonest form of arthrogryposis, present in 40% of cases, is a condition called amyoplasia … Lack of movement of intrauterine movement is also responsible, as in oligohydramnios … What are the symptoms? … In the commonest form of arthrogryposis, called amyoplasia, the typical deformities are … Shoulder - internal rotation deformity … Elbow - extension and pronation deformity … Wrist - volar and ulnar deformity … Hand - fingers in fixed flexion, and thumb-in-palm deformity … Hip - flexed, abducted and externally rotated, often dislocated … Knee - flexion deformity … Foot - clubfoot deformity …

6. JIMA - Issue - Vol 100 No 05, May, 2002
Case Note. amyoplasia congenita. Nilesh Banker. Table of Contents Print This Page amyoplasia congenita is a rare congenital disorder.
http://www.jimaonline.org/May2002/print_casenote2.htm
Case Note
Amyoplasia Congenita
Nilesh Banker
Amyoplasia congenita is a rare congenital disorder. Here such a case along with right sided inguinal hernia in 3-day-old male baby is presented with a brief review of literature. A 3-day-old male baby was presented with multiple bony deformities with right sided inguinoscrotal swelling since birth. It was diagnosed as a case of amyoplasia congenita along with a right sided inguinal hernia. The baby was managed with physiotherapy and right sided herniorrhaphy was done at 2 months and 2 days of age.
Keywords Amyoplasia congenita, arthrogryposis multiplex congenita, bony anomaly, inguinal hernia.
Amyoplasia congenita is a rare congenital disorder. It is a major form of arthrogryposis multiplex congenita (AMC)1,2. The entity refers to multiple contractures of joints which are fixed in flexion or less commonly in extension, accompanied by diminution and wasting of skeletal muscles3. Many children of this disorder survive but some die during infancy. One such case with multiple deformities is presented.
Case Report
A 3-day-old male baby, born from non-consanguineous marriage, presented with multiple bony deformities with right sided inguinoscrotal swelling since birth. The neonate was a product of full term vaginal home delivery, conducted by a trained dai and he had given cry immediately after birth. Evaluation of Apgar score was not feasible.

7. MyMedAdvice - Medical Glossary
amyoplasia congenita Congenital defect of the limbs characterized by joint contractures with the joints frozen in either flexion or extension at the time of
http://www.mymedadvice.com/html/0/gls_0294.htm
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8. ORPHANET - Rare Diseases - Orphan Drugs
Contact, Order the Orphanet book, Printing version, DISEASE amyoplasia congenita, ICD Q74.3, No description is available, Clinical signs(14), Outpatient clinic(s).
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1037

9. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
Translate this page Syndrom Amylo-1,6-Glukosidase-Mangel Amyloidose Amyloidose Amyloid-Polyneuropathie, familiäre Amylopektinose amyoplasia congenita Amyoplasie, okulomelische
http://www.orpha.net/Pat/DEA.html
A
Aagenaes-Syndrom

Aarskog-ähnliches Syndrom

Aarskog-Ose-Pande-Syndrom

Aarskog-Syndrom
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Azoospermie mit Lungeninfektion und Sinusitis

10. Arthrogryposis Multiplex Congenita
International Pediatrics/ Vol. 15/No. 4/2000 197Arthrogryposis Multiplex CongenitaArthrogryposis Multiplex CongenitaIsrael Alfonso, MD; Oscar Papazian, MD; Julio Cesar Paez, MD; John A. I. Moebius syndrome and amyoplasia congenita.amyoplasia congenitaNeonates with amyoplasia congenita are usually full Neonates. with amyoplasia congenita usually have multiple symmetri
http://www.int-pediatrics.org/PDF/Volume 15/15-4/alfonso.pdf

11. Entrez PubMed
Marfan s syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita). REEVE R, SILVER HK, FERRIER P. PMID 14436927 PubMed OLDMEDLINE for Pre1966
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

12. NORD - National Organization For Rare Disorders, Inc.
amyoplasia congenita. GuerinStern Syndrome. Myopathic Arthrogryposis Multiplex Congenita. Neurogenic Arthrogryposis Multiplex Congenita Arthrogryposis Multiplex Congenita, a rare
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Arthrogryposi

13. Entrez PubMed
Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). Murray C, Fixsen JA. Orthopaedic
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

14. Arthrogryposis Multiplex Congenita
Patients with amyoplasia congenita do not have evidence of brain, cardiac, or genitourinary tract abnormality. The cause of amyoplasia congenita is unknown.
http://pediatricneuro.com/alfonso/pg163.htm
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Patients with amyoplasia congenita do not have evidence of brain, cardiac, or genitourinary tract abnormality. Bowel atresia and gastroschisis have been reported. The cause of amyoplasia congenita is unknown. Fetal spinal cord disruption due to systemic hypotension producing anterior horn cell ischemia is the most likely explanation. Amyoplasia congenita is a sporadic condition. This is an important condition to recognize since the chances of recurrence are low and the prognosis is good. Muscle biopsies may show evidence of myopathy and neuropathy. Amyoplasia congenita is the final diagnosis in about one-third of neonates with arthrogryposis. Spinal Cord Abnormalities
Traumatic spinal cord injury usually occurs during delivery. It should be suspected if no cause for arthrogryposis is found and there are no signs of brain or brainstem involvement. Magnetic resonance imaging of the spine is indicated. Arthrogryposis of the lower extremities has been reported with lumbosacral meningocele (Figure 163.1) and with sacral agenesis. A B Figure 163.1.

15. EMedicine - Arthrogryposis : Article By Harold Chen, MD, MS, FAAP, FACMG
Arthrogryposis Arthrogryposis, or arthrogryposis multiplex congenita, comprises nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. The McGillivray BC Part II. Amyoplasia twinning in amyoplasiaa specific type of in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop 1997; B-6
http://www.emedicine.com/ped/topic142.htm
(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease
Arthrogryposis
Last Updated: April 21, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: arthrogryposis multiplex congenita, multiple congenital contractures, multiple congenital joint contractures, fetal akinesia, decreased fetal movements, development of extra connective tissue, fixation of the joint, joint fixation, scoliosis, limb dysfunction, joint deformity, limb malformations AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography
Author: 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 Editor(s): James Bowman, MD

16. Arthrogryposis Multiplex Congenita
and knees. Proximal arthrogryposis occurs in neonates with amyoplasia congenita. Figure 152.1.— Trisomy 18 hand position. The
http://pediatricneuro.com/alfonso/pg152.htm
MainMenu Back Next Index A pivotal step in the management of arthrogryposis multiplex congenita is to determine its cause. The cause of the arthrogryposis multiplex congenita determines the prognosis and recurrence rate of the disease. There are many causes of arthrogryposis multiplex congenita in neonates. Smith’s book on recognizable patterns of human malformation lists arthrogryposis multiplex congenita as a feature of over 100 syndromes. The differential diagnosis among these syndromes is made by analyzing the distribution of the arthrogryposis, the presence of facial dysmorphism, and other associated findings.
Arthrogryposis multiplex congenita may involve the distal or the proximal joints. Involvement of the distal joints is more frequent than involvement of the proximal joints. Neonates with distal arthrogryposis often have a very typical hand position (Figure 152.1). This typical hand position is frequently present in trisomy 13 and 18 syndromes, Pena-Shokeir I and II syndromes, and Smith-Lemli-Opitz syndrome. Proximal arthrogryposis usually involves the shoulders, elbows, hips, and knees. Proximal arthrogryposis occurs in neonates with amyoplasia congenita.

17. Medl8996
A relation with amyoplasia congenita in the newborn is presumed years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal
http://www.sonnet.com/avenues/medl8996.html
Medline Abstracts, Arthrogryposis, 1989-96
Toxicol Lett 1996 Dec 31;89(3):175-83
Comparison of nicotinic receptor binding and biotransformation of coniine in the rat and chick.
Forsyth CS, Speth RC, Wecker L, Galey FD, Frank AA
Biomedical and Environmental Information Analysis Section, Oak Ridge National Laboratory, TN 37830, USA. MeSH Terms:
  • Abnormalities, Drug-Induced/metabolism* Alkaloids/toxicity Alkaloids/pharmacokinetics* Analgesics/toxicity Analgesics/pharmacokinetics* Animal Biotransformation Brain/metabolism Brain/drug effects Chick Embryo Comparative Study Embryo, Nonmammalian/drug effects Male Microsomes, Liver/metabolism Microsomes, Liver/drug effects Muscle, Skeletal/metabolism Muscle, Skeletal/drug effects Nicotinic Antagonists/pharmacokinetics* Rats Rats, Sprague-Dawley Support, U.S. Gov't, Non-P.H.S. Survival Rate
Substances:
  • coniine Nicotinic Antagonists Analgesics Alkaloids
PMID: 9001585, UI: 97154871
Am J Med Genet 1996 Dec 30;66(4):475
Transient neonatal arthrogryposis: another case.
Robinow M, Miller M

18. Amyoplasia Congenita : On Medical Dictionary Online
amyoplasia congenita defined on the Free Online Medical Dictionary. amyoplasia congenita. Persistent flexure or contracture of a joint. (Dorland, 27th ed).
http://www.online-medical-dictionary.org/?q=Amyoplasia Congenita

19. Am : On Medical Dictionary Online
Starch Amylopectin Amylopectin Branching Enzyme Amylopectinoses Amylopectinosis Amylophosphorylase Amylose Amylum amyoplasia congenita Amyotonia Congenita
http://www.online-medical-dictionary.org/?q=~Am

20. Arthrogryposis Multiplex Congenita
amyoplasia congenita is characterized by a generalized lack of muscular development and growth, with contracture and deformity at most of the joints.
http://www.bchealthguide.org/kbase/nord/nord211.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord211"; var hwDocTitle="Arthrogryposis Multiplex Congenita"; var hwRank="1"; var hwSectionHWID="nord211"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Arthrogryposis Multiplex Congenita
Important
It is possible that the main title of the report 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
  • AMC Congenital Multiple Arthrogryposis Fibrous Ankylosis of Multiple Joints
Disorder Subdivisions
  • Neurogenic Arthrogryposis Multiplex Congenita Myopathic Arthrogryposis Multiplex Congenita Guerin-Stern Syndrome Amyoplasia Congenita
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Pterygium Syndrome Arthrogryposis Multiplex Congenita, Distal, Type I
General Discussion
Symptoms
In typical Arthrogryposis Multiplex Congenita (AMC), the range of motion of the joints of all limbs is limited or fixed. The shoulders are bent inward and internally rotated, the elbows are extended, and the wrists and fingers are bent. The hips may be dislocated and are usually slightly bent, the knees are extended, and the heel is bent inward from the midline of the leg while the foot is bent inward at the ankle (typical clubfoot).

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