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]
Cardiovascular
- Cyanosis
- the existence of severe respiratory distress episodes of cyanosis with establishment of an clinical situation of chronic cor pulmonale or important food difficulties can force to consider, depending on the type of laryngomalacia, of a plasty of the [sites.uclouvain.be]
DeBaun (new) 462.6 Abnormal Hemoglobins Causing Cyanosis Michael R. DeBaun (new) 462.7 Hereditary Methemoglobinemia Michael R. DeBaun (new) 462.8 Syndromes of Hereditary Persistence of Fetal Hemoglobin (HPFH) Michael R. [catdir.loc.gov]
Skin
- Skin Disease
(glycogen storage) E74.09 Anderson-Fabry disease E75.21 Andes disease T70.29 Andrews' disease (bacterid) L08.89 Androblastoma Androgen insensitivity syndrome E34.50 - see also Syndrome, androgen insensitivity Androgen resistance syndrome E34.50 - see [icd.codes]
Eyes
- Angioid Streaks of the Retina
streaks (choroid) (macula) (retina) H35.33 Angiokeratoma - see Neoplasm, skin, benign Angioleiomyoma - see Neoplasm, connective tissue, benign Angiolipoma - see also Lipoma Angioma - see also Hemangioma, by site Angiomatosis Q82.8 Angiomyolipoma - see [icd.codes]
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]
- Acroparesthesia
Acrochondrohyperplasia - see Syndrome, Marfan's Acrocyanosis I73.8 Acrodermatitis L30.8 Acrodynia - see Poisoning, mercury Acromegaly, acromegalia E22.0 Acromelalgia I73.81 Acromicria, acromikria Q79.8 Acronyx L60.0 Acropachy, thyroid - see Thyrotoxicosis Acroparesthesia [icd.codes]
Psychiatrical
- 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]
Neurologic
- Aerophobia
[…] lung imperfect, newborn - see Atelectasis Aerobullosis T70.3 Aerocele - see Embolism, air Aerodermectasia Aerodontalgia T70.29 Aeroembolism T70.3 Aerogenes capsulatus infection A48.0 Aero-otitis media T70.0 Aerophagy, aerophagia (psychogenic) F45.8 Aerophobia [icd.codes]
Workup
Biopsy
- Aschoff Body
[…] cytologic smear) ASC-US (atypical squamous cells of undetermined significance on cytologic smear) Ascariasis B77.9 Ascaridosis, ascaridiasis - see Ascariasis Ascaris (infection) (infestation) (lumbricoides) - see Ascariasis Ascending - see condition Aschoff's [icd.codes]
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]