PPT-Noonan syndrome: clinical features and management guidelines

DrPEshraghi Mashhad University of Medicine Emaileshraghip2mumsacir Noonan syndrome NS is a common clinically and genetically heterogeneous condition characterized by distinctive facial features short stature chest deformity congenital heart disease and co morbidities. Normal Anatomy. Origin. Gluteus . Maximus. Gluteus . Medius. Tensor Fascia . Latae. Ilium. Insertion. Lateral Femoral . Condyle. Tibial. . Infracondylar. Tubercle. Normal Anatomy. Continuation of TFL tendon. Peer Teaching Society. Jennifer . McMurran. . and Tori Shanklin (phase 3a students). What we’re going to cover. The classic patient, clinical features, the main antibody, investigations and management of several key autoimmune diseases . Noonan syndrome Presentation by Katie Gleason Doctor’s Report Diagnosis Observation of symptoms can be difficult as they may be subtle and unnoticeable Genetic testing can be done Associated symptoms and Available treatments {Template Slide Set}. 1. Overview. What are Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch . s. yndrome (LS)?. How common are LS and HBOC? . How do LS and HBOC affect individuals and families?. DiagnosticServiceshttp//wwwhealthhelpcom 2019HealthHelp All rights reserved16945 Northchase Dr 1300 Houston TX 77060 281 447-7000CT Maxillofacial/Sinus -Facial TraumaPOLICY INITIATED06/30/2019MOST RE A genetic disorder that causes delays in physical and intellectual development.. Causes of Down Syndrome. Caused by extra genetic material from chromosome 21. Prenatal Testing. Amniocentesis:. procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in the abdomen. Best Practices & Overcoming Obstacles. Richard . Rosenfeld, SUNY Downstate. Peter Robertson and Stephanie Jones, AAO-HNS. The American Academy of Otolaryngology—Head and Neck Surgery (AAO-HNS) is the world's largest organization representing specialists who treat the ear, nose, throat, and related structures of the head and neck. . . Liz . Marder. Trent Regional BACCH. . 2014. . What is the role of the doctor?. Help . make initial diagnosis . Give . information about Down . syndrome. . Screen . for likely medical problems . . Angelman Society of Israel. November 29th, 2018. ד"ר ג'רמי לוין. יו"ר ומנכ"ל. Forward-Looking Statements. This presentation contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as "may," "will," "expect," "plan," "anticipate" and similar expressions (as well as other words or expressions referencing future events or circumstances) are intended to identify forward-looking statements. Forward-looking statements contained in this presentation include statements about the progress, timing, clinical development and scope of clinical trials and the reporting of clinical data for the Company’s product candidates; the potential clinical benefit of the Company’s product candidates; and the timing and outcome of discussions with regulatory authorities. Each of these forward-looking statements involves risks and uncertainties. These statements are based on the Company’s current expectations and projections made by management and are not guarantees of future performance. Therefore, actual events, outcomes and results may differ materially from what is expressed or forecast in such forward-looking statements. Factors that may cause actual results to differ materially from these forward-looking statements are discussed in the Company’s filings with the U.S. Securities and Exchange Commission, including the "Risk Factors" sections contained therein. Except as otherwise required under federal securities laws, we do not have any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events, changes in assumptions or otherwise.. Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, Çelik N et al. gestational week as the first chil 117 IntroductionNoonan syndrome was described by Noonan and Ehmkein 1963 as a multisystem disorder, characterized by suchclinical features as short stature, hypertelorism, ptosis, Journal of Oral Scie SUMMARY Noonan syndrome (NS) is an autosomal dominant disorder, caused by mutations on genes located on the long arm of chromosome 12. The condition has no sex or race predilection and its incidenc 17 17 DOI: 10.7860/JCDR/2014/7926.4260 Case Report Goldenhar Syndrome - Review with Case Series Keywords:Deformity, Oculo-auriculo-vertebral, Goldenhar’s syndrome, Auricular appendices CASE T 1 What is Down Syndrome?. Down syndrome is a condition in which a person has an extra chromosome. . Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. .