1. Guérin-Stern Syndrome (www.whonamedit.com) Also known as Otto's syndrome RocherSheldon syndrome Rossi's syndrome Synonymsamyoplasia congenita, arthrogryposis multiplex congenita, arthrogryposis http://www.whonamedit.com/synd.cfm/1357.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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 Description: Historic term for the sequence of intrauterine hypokinesia (arthrogryposis). A clinical syndrome of congenital contracture of numerous joints in a flexed of contracted position with hypoplasia of the attached musculature and multiple pterygia. The usual wrist deformities consist of flexion and ulnar deviation, sometimes in association with extension contractures. Carpal malalignment is followed by narrowing of the intercarpal joint spaces and fusion. Other abnormalities in the hand may include syndactyly, amputation, camptodactyly, and delayed maturation. Usually combined with clubfoot, vertical talus, rocker bottom foot, hip dislocation. Occurs in three types: myopathic, neuropathic, and distal type. Bibliography: A. W. Otto:

2. The Contact A Family Directory - ARTHROGRYPOSIS Arthrogryposis amyoplasia congenita arthrogryposis multiplex congenitaAMC Otto Syndrome http://www.cafamily.org.uk/Direct/a72.html

printer friendly ARTHROGRYPOSIS home more about us in your area conditions information ... how you can help search this site Arthrogryposis: amyoplasia congenita : arthrogryposis multiplex congenita:AMC: Otto Syndrome Arthrogryposis Multiplex Congenita (AMC) is a term used to describe a baby born with multiple joint contractures and covers a wide range of conditions. The contractures limit the range of movement of the joints. The joints themselves may be fixed in a flexed or extended position. The number of joints affected can range from two or three to almost total involvement, including spine and jaw, resulting in a wide range of disability. AMC is a non-progressive condition with a normal life-span. However, joint contractures are sometimes linked to rare syndromes with limited life expectancy. Although AMC is associated with fetal immobility, the exact causes are not known. Early and specific diagnosis for each case is essential so that appropriate therapy can begin as soon as possible. Such treatment includes physiotherapy (including passive stretching) splinting and surgery. Inheritance patterns These are variable. In Amyoplasia, the most common form of AMC, there is no significant inheritance risk. Distal arthrogryposis, which primarily affects the hands and feet, is autosomal dominant. However, as there are over one hundred types of AMC, precise diagnosis of individual cases is necessary to establish the risk of possible recurrence.

3. Roche Lexikon Medizin (4. Aufl.) - Amyoplasia Congenita Translate this page Amyo pla sia congenita. engl. amyoplasia congenita. Krankheitsbildder Gruppe Arthrogryposis multiplex congenita mit verminderter http://www.gesundheit.de/roche/ro00000/r1362.html

Amyo pla sia congenita engl.: amyoplasia congenita Krankheitsbild der Gruppe Arthrogryposis multiplex congenita Verwandte Themen Arthrogryposis multiplex congenita

4. JIMA - Issue - Vol 100 No 05, May, 2002 amyoplasia congenita is a rare congenital disorder. It was diagnosed as a caseof 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 Previous Topic Next Topic Index Case Notes Amyoplasia Congenita Nilesh Banker Intro Case Report Discussion Acknowledgement References ... 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 Site designed and maintained by

5. Arthrogryposis Multiplex Congenita RocherSheldon syndrome Rossi syndrome amyoplasia congenita Congenital arthromyodysplastic syndrome Congenital http://www.ibis-birthdefects.org/start/arth.htm

Arthrogryposis Multiplex Congenita About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... 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 PrintThis 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. Arthrogryposis Multiplex Congenita with proximal arthrogryposis are likely to have amyoplasia congenita . Neonates with distal arthrogryposis present http://www.pediatricneuro.com/alfonso/pg167.htm

MainMenu Back Next Index DIFFERENTIAL DIAGNOSIS OF ARTHROGRYPOSIS MULTIPLEX CONGENITA Arthrogryposis multiplex congenita involving both upper extremities may resemble bilateral brachial plexus palsy. The characteristics of arthrogryposis multiplex congenita that distinguish it from brachial plexus palsy are: (1) the presence of skin pits at the wrists and (2) the permanent nature of the arm position (Figure 167.1). In patients with brachial plexus palsy there is no skin pits and the abnormal position is only present when the neonate attempts to move the arm Figure 167.1. Typical arm position and wrist pit characteristic of arthrogryposis multiplex congenita. DIFFERENTIAL DIAGNOSIS OF A NEONATE WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA Neonates with proximal arthrogryposis are likely to have amyoplasia congenita . Neonates with distal arthrogryposis present a complex diagnostic problem. Most neonates with distal arthrogryposis can only be diagnosed by recognizing a constellation of signs leading to the diagnosis of a syndrome. Few neonates with distal arthrogryposis have specific laboratory findings. Zellweger syndrome courses with increased very-long-chain fatty acids in plasma.

8. Arch Pediatr Adolesc Med -- Page Not Found Denouement and Discussion amyoplasia congenita. Figure 1. The disorder.2, 3 amyoplasia congenita is sporadic in occurrence. No recurrences http://archpedi.ama-assn.org/issues/v155n3/ffull/ppm00283-1b.html

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9. Arthrogryposis Multiplex Congenita Proximal arthrogryposis occurs in neonates with amyoplasia congenita. Figure 152.1. Trisomy 18 hand position. http://www.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.

10. Alfonso 18, SmithLemli-Opitz syndrome, Zellweger syndrome, Walker-Warburg syndrome, Marden-Walkersyndrome, spinal cord injury, amyoplasia congenita, infantile spinal http://www.int-pediatrics.org/newip/volumes/Volume 15-4/Review/Alfonso/alfonso.h

International Pediatrics Volume 15, Number 4 Review Article Arthrogryposis Multiplex Congenita Israel Alfonso, MD; Oscar Papazian, MD; Julio Cesar Paez, MD; John A. I. Grossman, MD Abstract Key words: Arthrogryposis multiplex congenita Introduction Arthrogryposis refers to a joint that is in a fixed position. Arthrogryposis multiplex congenita is diagnosed when two or more joints in more than one limb are fixed from birth ( Fig 1 ). A joint becomes fixed in a given position because of unevenly impaired joint motility. Unevenly impaired joint motility results from segmental muscle weakness or hypotonia, or from a sustained asymmetrical posture. Segmental muscle weakness or hypotonia is due to an imbalance between agonistic and antagonistic muscles. Sustained asymmetrical posture results from movement constraints due to reduced uterine volume or when thick skin bands prevent joint movement. Arthrogryposis multiplex congenita (AMC) may be caused by neurological and non-neurological causes. Non-neurological causes of AMC are cartilaginous abnormalities and physical constraint to movement. Neurological causes of AMC include central and peripheral nervous systems abnormalities ( Table 1 Cartilaginous Abnormalities Cartilaginous abnormalities should be consider the cause of AMC in neonates that are longer that expected for their gestational age, and those with hyperextensible and transparent skin, blue sclera, abnormal ear lobe shape and craniosynostosis.

11. Arthrogryposis Multiplex Congenita RocherSheldon syndrome Rossi syndrome amyoplasia congenita Congenitalarthromyodysplastic syndrome Congenital articular rigidity http://ibis-birthdefects.org/start/arth.htm

Arthrogryposis Multiplex Congenita About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... 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 …

12. Arth_p5 of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita)", door C. Murray en J.A. http://users.skynet.be/arthrogryposis/arth_p5.htm

W elke behandelingen zijn mogelijk ? Toepassing van gips- of spalktherapie Chirurgisch ingrijpen Voorbeelden van hulpmiddelen en toestellen Driehoekstoeltje gemonteerd op een voetstuk. Het stoeltje is voorzien van verstelbare beensteunen en van een tussenstuk tussen de benen. Het bord is afneembaar zodat het kind probleemloos in en uit de stoel kan. Het kind zit op die manier comfortabel en kan gewoon aan tafel zitten. Voorligstabilisator rijglaarsjes Uit de literatuur "The management of arthrogryposis" , door Peter Williams, verschenen in orthopaedics clinics of North America, vol. 9 , nr. 1 - jan. 1978. "Ambulation in severe arthrogryposis" door M. Mark Hoffer, Susan Swank, Douglas Clark en Robert Teitge, verschenen in Journal of Pediatric Orthopaedics, 1983,nr. 3 p.293-296. "Passive motion therapy for infants with arthrogryposis" door Patrick M. Palmer, G. Dean McEwen, J. Richard Bowen en Pamela A. Mathews. Verschenen in clinical orthopaedics and related research, nr.194,april 1985. "Foot and Ankel deformities in arthrogryposis multiplex congenita" door kenneth J. Guidera en James C. Drennan. Verschenen in clinical orthopaedics and related research, nr. 194, april 1985.

13. Health Library - Arthrogryposis Multiplex Congenita Neurogenic Arthrogryposis Multiplex Congenita; Myopathic Arthrogryposis MultiplexCongenita; GuerinStern Syndrome; amyoplasia congenita. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

14. Arthrogryposis Multiplex Congenita (AMC) Otto syndrome. RocherSheldon syndrome. Rossi syndrome. amyoplasia congenita.congenital arthromyodysplastic syndrome. congenital articular rigidity. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome039.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record 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.

15. Syndrome DB - Table Of Contents embryopathy aminopterinlike syndrome aminopterin-like syndrome without aminopterinAmish brittle hair syndrome Amsterdam type amyoplasia congenita anal-ear http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z A Aarskog syndrome Aarskog-Scott syndrome (ASS) abdominal muscle deficiency anomalad abdominal muscle deficiency syndrome ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

16. NORD - National Organization For Rare Disorders, Inc. Joints. Disorder Subdivisions amyoplasia congenita; GuerinSternSyndrome; Myopathic Arthrogryposis Multiplex Congenita; Neurogenic http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Arthrogryposi

17. The Contact A Family Directory - Index A Alzheimer's Disease Amblyopia see Vision Disorders in Childhood Amyloidosis see MetabolicDiseases amyoplasia congenita see Arthrogryposis Amyotrophic Lateral http://www.cafamily.org.uk/Idx/a.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. aAA see Acquired Aplastic Anaemia ACI see Arterial Calcification of Infancy ADA see Primary Immunodeficiencies ADD see Attention Deficit Hyperactivity Disorder ADEM see Acute Disseminated Encephalomyelitis (ADEM) ADHD see Attention Deficit Hyperactivity Disorder AHT see Thyroid Disorders AIDS see HIV Infection and AIDS ALA dehydratase deficiency see Porphyria ALD see Adrenoleukodystrophy ALL see Leukaemia and other Allied Blood Disorders AMC see Arthrogryposis AML see Leukaemia and other Allied Blood Disorders APRT see APS see Hughes Syndrome ASA see ASD see Heart Defects ATR-X see Alpha Thalassaemia - Mental Retardation on the X Chromosome Abdominal Exstrophies Abdominal Migraine Abetalipoproteinaemia see Metabolic Diseases Achondroplasia Acne Acne Vulgaris see Acne Acoustic Neuroma Acquired Aplastic Anaemia Acquired Haemochromatosis see Haemochromatosis Acquired Hypothyroidism see Thyroid Disorders Acrodermatitis Enteropathica see Metabolic Diseases Acrofacial dysostosis see Nager Syndrome Acromegaly see Pituitary Disorders Leukaemia and other Allied Blood Disorders Acute Diffuse Glomerulonephritis see

18. Arthrogryposis Multiplex Congenita Neonates with proximal arthrogryposis are likely to have amyoplasia congenita.Neonates with distal arthrogryposis present a complex diagnostic problem. http://pediatricneuro.com/alfonso/pg167.htm

MainMenu Back Next Index DIFFERENTIAL DIAGNOSIS OF ARTHROGRYPOSIS MULTIPLEX CONGENITA Arthrogryposis multiplex congenita involving both upper extremities may resemble bilateral brachial plexus palsy. The characteristics of arthrogryposis multiplex congenita that distinguish it from brachial plexus palsy are: (1) the presence of skin pits at the wrists and (2) the permanent nature of the arm position (Figure 167.1). In patients with brachial plexus palsy there is no skin pits and the abnormal position is only present when the neonate attempts to move the arm Figure 167.1. Typical arm position and wrist pit characteristic of arthrogryposis multiplex congenita. DIFFERENTIAL DIAGNOSIS OF A NEONATE WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA Neonates with proximal arthrogryposis are likely to have amyoplasia congenita . Neonates with distal arthrogryposis present a complex diagnostic problem. Most neonates with distal arthrogryposis can only be diagnosed by recognizing a constellation of signs leading to the diagnosis of a syndrome. Few neonates with distal arthrogryposis have specific laboratory findings. Zellweger syndrome courses with increased very-long-chain fatty acids in plasma.

19. AMYOPLASIA CONGENITA amyoplasia congenita Congenital defect of the limbs characterized by joint contractureswith the joints frozen in either flexion or extension at the time of http://www.mymedadvice.com/html/0/gls_0294.htm

AMYOPLASIA CONGENITA - Congenital defect of the limbs characterized by joint contractures with the joints frozen in either flexion or extension at the time of birth. These defects result in a severe limitation in range-of-motion in the joints. The condition is probably of diverse genetic etiology that results from changes in the spinal cord, muscles, or connective tissue.

20. Dorlands Medical Dictionary 2. myotonic dystrophy. myodystrophia feta¢lis, amyoplasia congenita. myodystrophy(myo·dys·tro·phy) (mi²odis¢trschwa-fe) 1. muscular dystrophy. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

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