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Generalized Amyoplasia


Presentation

  • In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios.[semanticscholar.org]
  • Addresses a full range of lower extremity deformations ; joint dislocations; nerve palsies; chest and spinal deformations; head and neck deformations; craniosynostosis and cranial bone variations; problems associated with abnormal birth presentation,[books.google.de]
  • The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.[lirias.kuleuven.be]
  • Segmental amyoplasia results from a defective somite, usually because of lack of induction by the notochord and neural tube; the connective tissue matrix of the muscle is derived from lateral mesoderm and is present, but the myocytes are derived from[semanticscholar.org]
  • […] associated widespread restriction of mobility of a number of joints producing the clinical picture of arthrogryposis is rare in arachnodactyly, and we have been able to find only one such previously reported case. 15 The purpose of this paper is to present[archpedi.jamanetwork.com]
Physician
  • In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic’s Medical Staff Association recognized Dr.[books.google.de]
  • […] societies: American Pediatric Society, Society for Pediatric Research , British Association of Perinatal Medicine , British Medical Association , Neonatal Society , Nepal Medical Association , Royal College of Paediatrics and Child Health , Royal College of Physicians[emedicine.medscape.com]
  • Paul, MN 55455 (612)335- 5300 I would like to be included on the list of physicians interested in treating arthrogryposis.[avenuesforamc.com]
Sudden Infant Death Syndrome
  • Updated discussion of Sudden Infant Death Syndrome brings a new focus to the important topic of infant sleeping environments.[books.google.de]
  • Green (new) 372 Sudden Infant Death Syndrome Carl E. Hunt and Fern R. Hauck Section 2.[catdir.loc.gov]
Difficulty Walking
  • walking Short nose Abnormal heart morphology Clinodactyly Retrognathia Micropenis Posteriorly rotated ears Cerebellar hypoplasia Heterogeneous Clinodactyly of the 5th finger Abnormality of the dentition Hypoplasia of the corpus callosum Conspicuously[mendelian.co]
Arthralgia
  • - see Hypertension, kidney Arteriopathy I77.9 Arteriosclerosis, arteriosclerotic (diffuse) (obliterans) (of) (senile) (with calcification) I70.90 Arteriospasm I73.9 Arteriovenous - see condition Arteritis I77.6 Artery, arterial - see also condition Arthralgia[icd.codes]
  • […] necrosis Thickened calvaria Bowel incontinence Femoral bowing Open bite Chronic otitis media Malar flattening Abnormality of the skeletal system Corneal dystrophy Cervical cord compression Hypertrophic cardiomyopathy Weight loss Camptodactyly of finger Arthralgia[mendelian.co]
Torticollis
  • […] nerve palsies; chest and spinal deformations; head and neck deformations; craniosynostosis and cranial bone variations; problems associated with abnormal birth presentation, birth palsies, and procedure-related defects; infant head shape variations; and torticollis[books.google.de]
  • Dormans (new) 679.1 Torticollis John P. Dormans (new) 679.2 Klippel-Feil Syndrome John P. Dormans (new) 679.3 Atlantoaxial Instability John P. Dormans (new) 680 The Upper Limb John P. Dormans (new) 680.1 Sprengel Deformity John P.[catdir.loc.gov]
Osteoporosis
  • Inappropriate laughter Limb tremor Moderate global developmental delay Keratoconus Profound global developmental delay Progressive gait ataxia Epileptic spasms Fair hair Hyperkinesis Blue irides Drowsiness Overweight Protruding tongue Constipation Obesity Osteoporosis[mendelian.co]
  • Chesney 705 Osteoporosis Russell W. Chesney Part XXXII: Environmental Health Hazards 706 Pediatric Radiation Injuries Thomas L. Slovis (new) 707 Chemical Pollutants Philip J. Landrigan and Joel A. Forman 708 Heavy Metal Intoxication Collin S.[catdir.loc.gov]
Joint Deformity
  • Serial casting after physical therapy has achieved maximum usefulness with weekly changes of cast and gentle manipulation. [ 7 ] Surgical care Surgery is often needed to correct soft tissue contractures and joint deformities.[patient.info]
Joint Dislocation
  • Addresses a full range of lower extremity deformations ; joint dislocations; nerve palsies; chest and spinal deformations; head and neck deformations; craniosynostosis and cranial bone variations; problems associated with abnormal birth presentation,[books.google.de]
Suggestibility
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.[lirias.kuleuven.be]
  • For example, single-shot nerve block is suggested for upper or lower extremities and caudal block can be used for postoperative analgesia of club-foot repair or hernia repair.[academic.hep.com.cn]
  • We don't want to give up that easy and would appreciate anybody's suggestions or help. If you know of a doctor , any information at all , we would ask you answer us as soon as you can.[avenuesforamc.com]
Catatonia
  • […] techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia[books.google.de]
Polyneuropathy
  • Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly[books.google.de]
Myelopathy
  • Tremor Dermatan sulfate excretion in urine Urinary glycosaminoglycan excretion Blue nevus Heparan sulfate excretion in urine Retinoschisis Tracheobronchomalacia Dilated cardiomyopathy Intestinal pseudo-obstruction Retinal fold Mucopolysacchariduria Myelopathy[mendelian.co]

Workup

Kingella
  • Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly[books.google.de]

Treatment

  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.de]
  • Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies.[books.google.de]
  • The only source devoted to the diagnoses and management of birth defects resulting from mechanical forces, this reference supplies the essential guidance needed for timely intervention and effective treatment.[books.google.de]
  • Treatment of newborn focuses on whether only limbs are affected or if there are abnormalities of nervous or muscular systems. Treatment for isolated joint abnormalities begins with plaster casts in newborn period.[mhmedical.com]
  • Treatment Treatment for AMC is multidisplinary and involves the participation of orthopedics, neurologists, anesthesiologists, physical therapists, and parents/guardians.[academic.hep.com.cn]

Prognosis

  • Examines the initial clinical approach to suspected deformation problems, and then walks you through pathogenesis, diagnostic features, management, prognosis, and counseling for each condition.[books.google.de]
  • Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year.[patient.info]
  • Congenital deformities of the feet, hips and spine may require surgical correction at or about one year of age. [4] Prognosis Overall prognosis for children with amyoplasia is good.[popflock.com]
  • Congenital deformities of the feet, hips and spine may require surgical correction at or about one year of age. [4] Prognosis [ edit ] Overall prognosis for children with amyoplasia is good.[en.wikipedia.org]
  • Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused[leaderbook.com.tw]

Etiology

  • […] growth, with contracture and deformity at most joints. ar·thro·gry·po·sis mul·'ti·plex con·gen·'i·ta [MIM*108110] limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse etiology[medical-dictionary.thefreedictionary.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Although the etiology of AMC is unclear, any factor that decreases fetal movement may result in multiple contractures.[academic.hep.com.cn]
  • Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr . 2018 Jun 15. [Medline] . Hall JG.[emedicine.medscape.com]
  • Hall JG: Arthrogryposis multiplex congenita: Etiology, genetics, classification, diagnostic approach and general aspects. J Pediatr Orthoped Part B 1997;6:159–166.[karger.com]

Epidemiology

  • Epidemiology It may occur to some extent in 1 in 3,000 to 1 in 5,000 live births. [ 3 ] The condition is usually detected at birth or before by ultrasound examination. It is often secondary to other conditions.[patient.info]
  • Camitta Part XXI: Cancer and Benign Tumors 491 Epidemiology of Childhood and Adolescent Cancer Nina S. Kaddan-Lottick (new) 492 Molecular and Cellular Biology of Cancer Laura L.[catdir.loc.gov]
  • Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A . 2006 Sep 1. 140A(17):1834-9. [Medline] . Lin IW, Chueh HY, Chang SD, Cheng PJ.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology and diagnostic approach to laryngomalacia in infants. Eur Annals of Otorhinolaryng, Head and Neck Dis 2012; 129: 257-63. - Ahmad SM, Soliman AM. Congenital anomalies of the larynx.[sites.uclouvain.be]
  • Thus, it is important for anesthesiologists to understand the pathophysiology of AMC to best manage patients in the perioperative setting. Compliance with ethics guidelines Lulu Ma and Xuerong Yu declare that they have no conflict of interest.[academic.hep.com.cn]
  • Development and Function 370 Respiratory Pathophysiology and Regulation Ashok Sarnaik (new) 371 Diagnostic Approach to Respiratory Disease Thomas P. Green (new) 372 Sudden Infant Death Syndrome Carl E. Hunt and Fern R. Hauck Section 2.[catdir.loc.gov]

Prevention

  • Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology.[patient.info]
  • […] normal hydrochloric acid in the gastric juice of his stomach mucosa. anacousis (s) ( noun ) , anacouses (pl) The total loss or absence of the ability to perceive sounds: Anacousis implies a handicap known as deafness that is sufficiently severe as to prevent[wordinfo.info]
  • Genetics, Genetic Counseling, and Prevention 5. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 6.[leaderbook.com.tw]
  • Stoll, Ira Adams-Chapman 96.8 Treatment and Prevention of Fetal Disease Barbara J. Stoll, Ira Adams-Chapman 97 The High-Risk Infant Barbara J. Stoll, Ira Adams-Chapman 97.1 Multiple Gestation Pregnancies Barbara J.[catdir.loc.gov]
  • Moreover, posterior spinal instrumentation is required to prevent further angular deformity caused by scoliosis. The primary objective is to restore the ability of personal care, mobility, and functional ambulation.[academic.hep.com.cn]

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