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]
The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed. [lirias.kuleuven.be]
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]
[…] 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]
Musculoskeletal
- 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]
Neurologic
- Headache
Johnston 595 Headaches Robert H. A. Haslam 595.1 Migraine Robert H. A. Haslam 595.2 Organic Headaches Robert H. A. Haslam 595.3 Tension or Stress Headaches Robert H. A. Haslam 596 Neurocutaneous Syndromes Robert H. A. [catdir.loc.gov]
Treatment
This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.de]
Discussion: AMC is a disease that impairs the individual to carry out proper care of the oral cavity, which while difficult to manage and conventional treatment of the patient. [go.gale.com]
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]
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 [ edit ] Overall prognosis for children with amyoplasia is good. [en.wikipedia.org]
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]
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]
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]