Presentation
Individuals presenting with FSS are believed to be at risk for postoperative pulmonary complications ... [accessanesthesiology.mhmedical.com]
However, there is a broad spectrum of variability in the clinical presentation of FSS to the extent that only orofacial manifestations of the disease can be present without abnormalities of the limbs [12]; thus genetic analysis is often needed to reinforce [hindawi.com]
In this report, anesthesia approach in case of FSS in whom operation is planned for circumcision and inguinal hernia repair is presented. [longdom.org]
Fig. 1 Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). [ojrd.biomedcentral.com]
The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS. METHODS. [pediatrics.aappublications.org]
Treatment
The results of talipes treatment are usually very good with few lasting effects, as are the results of hand surgery. The majority of children grow up to lead a normal life, working and raising a family. [gosh.nhs.uk]
There may be malocclusion (misalignment) of the teeth and orthodontic treatment of this may be required. Opening the mouth fully for dental treatment may be difficult. [contact.org.uk]
Standard Therapies Treatment The treatment of Freeman-Sheldon syndrome is directed toward specific symptoms that are apparent in each individual. [rarediseases.org]
Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]
Treatment and outcomes of arthrogryposis in the lower extremity. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):372-84. [Medline]. [Full Text]. Gagnon M, Caporuscio K, Veilleux LN, Hamdy R, Dahan-Oliel N. [medscape.com]
Prognosis
Prognosis There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [owlapps.net]
Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]
Etiology
Darin N, Kimber E, Kroksmark AK, Tulinius M: Multiple congenital contractures: Birth prevalence, etiology and outcome. J Pediatr 2002; 140(1): 61-7. [medigraphic.com]
Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]
We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. [hindawi.com]
Epidemiology
Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. [owlapps.net]
Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. References ^ Freeman, EA; Sheldon JH (1938). "Cranio-carpo-tarsal dystrophy: undescribed congenital malformation". [dictionnaire.sensagent.leparisien.fr]
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. [medscape.com]
Epidemiology Population prevalence of FBS is unknown. Aetiology Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. [ojrd.biomedcentral.com]
Pathophysiology
"Persistent elevations of cerebrospinal fluid concentrations of corticotropin-releasing factor in adult nonhuman primates exposed to early-life stressors: implications for the pathophysiology of mood and anxiety disorders". Proc. Natl. Acad. Sci. [dictionnaire.sensagent.leparisien.fr]
Evaluating the biochemical burden and gross physiological consequences of aberrant ATP functioning in FBS are especially important in developing targeted therapeutic interventions that can compensate for this pathophysiology and eventually to correct [ojrd.biomedcentral.com]
Prevention
Littler JW: The prevention and the correction of adduction contracture of the thumb. Clin Orthop 1959; 13: 182-5. Hall J: Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic proach and general aspects. [medigraphic.com]
"[Health in stress: change in the stress concept and its significance for prevention, health and life style]" (in German). Gesundheitswesen 64 (2): 73–81. doi:10.1055/s-2002-20275. PMID 11904846. ^ Lesinskiene S, Kajokiene A, Pūras D (2002). [dictionnaire.sensagent.leparisien.fr]
Bilateral commissurotomy followed by the use of a patient customized dynamic oral commissure retractor has been effective in dealing with microstomia and preventing recurrence due to scar contracture that occurs months following surgical intervention [hindawi.com]
Management must be proactive to avoid preventable complications and optimise the patient’s functional and occupational status—not reactive maintenance. [ojrd.biomedcentral.com]