“Moreover, rapid advances are occurring in TSC treatment research, so we are excited about the new focus on the importance of comprehensive and coordinated care outlined in the guidelines.”. Some minor changes have been made for clarity or to correct spelling errors originally in [PMC free article] [Google Scholar] Oral manifestations include gingival enlargement, fibromas, and dental enamel pitting. According to Dr. Krueger, “TSC’s manifestations vary widely among individuals and can sometimes even be life threatening, so accurate clinical consensus guidelines are critical to ensure optimal healthcare management. TSC Tuberous sclerosis complex The Tuberous Sclerosis Association believes that actively involving people living with TSC in . Their aim Von Recklinghausen first described In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal … For more information, visit, Requirements for Application for Active Membership, Requirements for Application for Junior Membership, Apply for free Medical Student Education Membership, M. Richard Koenigsberger Memorial Scholarship, PHILIP R. DODGE Young Investigator Award Endowment Fund, Roger and Mary Brumback Memorial Award Fund, International Affairs Committee Global Health Programs, New Guidelines Announced for Diagnosis, Surveillance and Management of Tuberous Sclerosis Complex. Tuberous Sclerosis Complex (TSC) is a genetic disease caused by mutations in the tumour suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16.1,2 Approximately two-thirds of cases occur sporadically. All rights reserved. View the collection. Title Microsoft Word - TSCanada TREATMENT CONSENSUS GUIDELINES.docx Author Patricia Created Date 10/21/2013 11:59:49 PM There is no cure for TSC, although treatment is available for a number of the symptoms, including medication management, intervention programs, school services, occupational therapy, and surgery for skin lesions. Departments of *Genetics and 2. The signs, symptoms, and severity of the disorder can vary dramatically from one person to another, even among members of the same family. “Prior guidelines were based on a 1998 TSC consensus conference, and since then, tremendous advances have been made in the field of TSC, particularly in the growth of new treatment options. Doctors at NewYork-Presbyterian/Morgan Stanley Children's Hospital provide specialized treatment for children with tuberous sclerosis complex (TSC), a genetic disorder which can affect multiple organs. COVID-19 updates See our safe care and visitor guidelines, plus trusted coronavirus information. Lung and kidney tumors are more likely to develop in adulthood. *Northrup H et al. Guidelines come from ICD-9-CM and ICD-10-CM, CPT®, payers, government agencies, and a host of other sources. Clinical, endocrine, and metabolic evaluations were performed in seven institutionalized patients with tuberous sclerosis. Krueger and Northrup served as co-chairs of the TS Alliance’s 2012 International TSC Consensus Conference, which involved 79 TSC experts from 14 countries to develop the new guidelines. EEGs are less likely to have a typical hypsarrhythmia pattern and may show more focal discharges. Comprehensive Care for a Rare Disease. In patients with tuberous sclerosis complex (TSC), add-on cannabidiol reduces drug-resistant seizures compared with add-on placebo and has a good safety profile,the team concluded. TSC is a genetic condition that can lead to growths in various organs of the body, but those most commonly affected are the brain, eyes, heart, kidney, skin and lungs. Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. Our dedicated advisers and active NewYork-Presbyterian/Columbia University Irving Medical Center is home to a dedicated team of pediatric and adult healthcare professionals from multiple disciplines who collaborate to care for people with tuberous sclerosis complex (TSC), a genetic disorder which can affect multiple organs. This includes some children with tuberous sclerosis complex or malformations of the brain. He has received honoraria from 23andMe and Sequenom to attend roundtable meetings and to speak at meetings. real world quality of these notes for educational purposes, we have not re-written or edited the notes to the stringent grammatical or stylistic standards found in the text of our products. Enter multiple addresses on separate lines or separate them with commas. 2013;49:243-254. Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference, Pediatric Neurology(October 2013) 2… TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. Epilepsy is the most common neurologic manifestation of TSC, affecting approximately 85% of patients, with onset often during infancy ystems, most frequently in … IntroductionTuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterised by benign hamartomatous growths in multiple organs, including the skin, brain, kidneys and lungs(1–3). Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. Pediatr Neurol . Aim: This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations. Almost all of these tumors are benign (not cancerous), but they can cause a variety of health problems. tuberous sclerosis complex (TSC) Summary Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement that frequently occurs in early childhood. Tuberous sclerosis complex (TSC) is a genetic syndrome with a highly variable phenotype that may affect several organ systems. Tuberous sclerosis complex often affects the brain, resulting in a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. with gingival overgrowth is presented. Certain symptoms develop before to birth, such as heart tumors (rhabdomyoma). Pediatrics. The incidence has been estimated to be 1 per 5800 live births.3 The protein products of TSC1 and TSC2 (hamartin and tuberin) function together within the cell and have an inhibitory effect on the mammalian target of rapamycin (mTOR), a protein kinase that influences cell growth and division an… Additional information for your physician is available here. Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial. Two separate genes have been reported that have been mutated or deleted kin patients with TSC. 1 2 It results from a mutation of either TSC1 or TSC2 gene; TSC1 gene codes for hamartin and is located on chromosome 9q34 while TSC2 gene codes for tubulin and is located on chromosome 16p13. © 2012 Child Neurology Society | 1000 W. County Road E, Suite 290 | Saint Paul, Minnesota 55126 TSC is a genetic disease affecting approximately 50,000 in the United States and up to 1 million worldwide. PAGE 1 OF 1 Bright utures edical creening Reference Table First ee isit to as The recommendations in this publication do not indicate an eclusive course of treatment or serve as a standard of medical care. Darcy A. Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, and Hope Northrup, MD, of The University of Texas Medical School at Houston, wrote both papers in Pediatric Neurology. The following papers preceded by an asterisk are available free of charge with open access to anyone in the world. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist, Pediatric Neurology (January 2015) Hinton RB et al. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group . Tuberous sclerosis complex(結節性硬化症)は,1835年にPFO Rayerによる顔面の血管線維腫(Facial angiofibroma)の紹介1),ついで,1862年のvon Reck-linghausen,その後1880年のBournevilleによるてんか んを伴う知的3) A case of tuberous sclerosis with gingival overgrowth is presented. Tuberous sclerosis complex is characterized by the occurrence of benign hamartomas in multiple organs. He also serves as an advisor for Envision Genomics and Genome Medical, and has conducted a CME Course for Quantia. The estimated prevalence is 1:600-1:10,000 live births in the general population(4–6). Dr Bebin has disclosed that she is a consultant and site principal investigator for Novartis Pharmaceuticals epilepsy clinical trials and a consultant for GW Pharma epilepsy trials. Send reprint requests to: Dr. John Rapley, Department of Periodontics, University of Missouri‐Kansas City, School of Dentistry, 650 East 25th St., Kansas City, MO 64108. She receives NIH-NINDS grant funding for tuberous sclerosis research studies, serving as principal and coinvestigator, respectively, on NIH grants F121213001 and F120629001. Category 1 - based on high-level evidence, uniform consensus that intervention is appropriate; ≥ 1 convincing class I study, or ≥ 2 convincing & consistent class II studies, or ≥ 3 convincing & consistent class III studies We are thankful to everyone who worked so hard at the 2012 conference.”, “Gathering so many experts was crucial to ensure the updated recommendations benefited from a wide range of diverse perspectives,” added Dr. Northrup. Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that occurs in 1 of 6000 children; 85% of cases involve mutations in the TSC1 gene (9q34), which controls the production of hamartin, or the TSC2 gene (16p13.3), which controls the production of tuberin. We do not capture any email address. Introduction. Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Read more... Help & support We support individuals and families affected by TSC. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Approximately two-thirds of cases occur sporadically. It causes tumors to form in vital organs, primarily the brain, heart, kidneys, skin, eyes, liver and lungs. Guidelines Released by AAN to Help Inform Treatment Choices for Multiple Sclerosis April 23, 2018 The American Academy of Neurology (AAN) has released a Practice Guideline to help healthcare professionals and people with MS choose among available disease-modifying therapies. Treatment Guidelines The following table provides guidelines to help you and your loved one manage the treatment of TSC. The estimated prevalence is 1:600-1:10,000 live births in the general population(4–6). There is no “one size fits all” with regard to payer guidelines and related protocols (e.g., Which payers still accept What is TSC? PROCEDURE FOR NEWLY DIAGNOSED OR SUSPECTED TSC FOR INDIVIDUALS ALREADY DIAGNOSED WITH TSC BRAIN Brain MRI with and without gadolinium Yes Every 1-3 years up to age 25; periodically … Study rundown: Tuberous sclerosis complex (TSC) is a genetic condition with an incidence of 1 in 6000 live births: It involves excess cell growth and proliferation in numerous organ systems, with epilepsy affecting 85% of TSC patients. COVID-19: What you need to know Vaccine updates, safe care and visitor guidelines, and trusted coronavirus information Tuberous sclerosis complex (TSC) is a rare genetic condition that causes tumors to grow in many different organs of the body. Keywords: tuberous sclerosis, surveillance, treatment, management, guideline Pediatr Neurol 2013; 49: 255-265 2013 The Authors. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. For more information, visit www.tsalliance.org or call 800-225-6872. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come. Thank you for your interest in spreading the word on American Academy of Pediatrics. To communicate the recommendations to healthcare professionals, the October issue of Pediatric Neurology includes two peer-reviewed papers detailing the new guidelines – … Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. McGovern Medical School. For the full article follow the link: Thiele EA, Bebin EM, Bhathal H, et al. Tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation, which results in hamartoma formation in many organs (eg, skin, brain, eye, kidney, heart). Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. Download our publication for medical professionals, Diagnosis, Surveillance and Management of Tuberous Sclerosis Complex. Ultrasound (US) can detect the location, quantity, size and internal echo of TSC-associated renal diseases, liver angiomyolipoma (AML), and co-existing lesions, providing important diagnostic basis for clinical diagnosis. Within cells, these two proteins likely work together to help regulate cell growth and size. Steven L. Roberds, PhD, Chief Scientific Officer of the TS Alliance, led the conference’s implementation and said, “It was truly impressive to witness all these compassionate experts from varying fields work together so effectively toward the common goal of ensuring the best care for people with TSC.”. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Drs. Disclosure • I am listed as an inventor on a … Phone 651.486.9447 Fax 651.486.9436 | nationaloffice@childneurologysociety.org, Formed in 1974, the TS Alliance is the only U.S.-based non-profit organization dedicated to finding a cure for TSC while improving the lives of those affected. The estimated prevalence is approximately one case per 6000—10,000 individuals. Contact your librarian or administrator if you do not have a username and password. making decisions about their own care, treatment and support can help people to stay well and manage their own condition better. Background Tuberous sclerosis complex (TSC) is an autosomal dominant condition with an estimated incidence between 1 in 6000 and 1 in 11 000 births. You will be redirected to aap.org to login or to create your account. AFP Journal Issues Current Issue Past … TSC is also the leading genetic cause of both epilepsy and autism. To communicate the recommendations to healthcare professionals, the October issue of Pediatric Neurology includes two peer-reviewed papers detailing the new guidelines – one entitled “Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference” and the other, “Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.”. In these children, there are often focal features to the spasms, such as head or eye turning to one side. Introduction Tuberous Sclerosis Complex (TSC) is a genetic disease caused by mutations in the tumour suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16. Silver Spring, MD—Today, the Tuberous Sclerosis Alliance (TS Alliance) formally announced newly updated clinical consensus guidelines for the diagnosis, surveillance and management of tuberous sclerosis complex (TSC). • Of 62 children seen at The Hospital for Sick Children, Toronto, who had tuberous sclerosis (TS), 58 had a history of seizures (developing during the first year of life in 37) and mental retardation was diagnosed in 51. 2013. Overwater IE, Bindels-de Heus K, Rietman AB, et al. Diagnosis, Surveillance and Management of Rare Genetic Disease Tuberous Sclerosis Complex New Health Guidelines Released Pediatric Neurology: Two Peer-Reviewed TSC Papers Featured October, 2013 For more details and to download the new TSC clinical consensus guidelines & published articles, please visit the links at the bottom of this page. Other symptoms become more obvious in childhood, such as developmental delay and skin changes. IntroductionTuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterised by benign hamartomatous growths in multiple organs, including the skin, brain, kidneys and lungs(1–3). OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. Tuberous sclerosis is an autosomal dominant multisystem disorder with effects on the skin, brain, heart, and other organs. Silver Spring, MD—Today, the Tuberous Sclerosis Alliance (TS Alliance) formally announced newly updated clinical consensus guidelines for the diagnosis, surveillance and management of tuberous sclerosis complex (TSC). (rhabdomyoma). NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Pediatric neurology 2013;49(4):243-254. Certain symptoms develop before to birth, such as heart tumors (rhabdomyoma). The report presents a case of Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up. Tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation, which results in hamartoma formation in many organs (eg, skin, brain, eye, kidney, heart). Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in child and adolescent psychiatry. Tuberous Sclerosis Complex Surveillance and Management Guidelines from Tuberous Sclerosis Australia This document is only valid for the day … “The TS Alliance is thrilled to announce these new ‘international gold standards’ for TSC diagnosis, surveillance and management,” explained Kari Luther Rosbeck, President & CEO of the TS Alliance. Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. If your organization uses OpenAthens, you can log in using your OpenAthens username and password. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, et al. 1. Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder that is characterized by pleomorphic features involving many organ systems, including multiple benign hamartomas of the brain, eyes, heart, lung, liver, kidney, and skin [].The expression of the disease varies substantially. Patients present at different ages with different manifestations, and varying degrees … With the advent of genetic and molecular techniques, mutations in the TSC1 Test Performed at diagnosis, every 3 to 5 years in asymptomatic individuals, and as indicated for follow-up. The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex. The American Academy of Pediatrics recognizes the harm racism causes to infants, children, adolescents, and their families. A 5-year-old fully immunized girl with a history of tuberous sclerosis, localization-related epilepsy with remote resection of a seizure focus, developmental delay, oral aversion with gastrostomy tube dependence, and necrotizing Bruce R. Korf, MD, PhD[*][1] 2. 1, 2 Approximately two-thirds of cases occur sporadically. doi: 10.1542/peds.2016-4040. Currently, there is no cure. Tuberous Sclerosis Complex (TSC): Genetics and Care Guidelines Hope Northrup, MD Director, Division of Medical Genetics Professor, Department of Pediatrics Disclosure • I am listed as an inventor on a patent Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist, Pediatric Neurology (January 2015) Hinton RB et al. “These two consensus papers will help to guide our diagnosis and management strategies for TSC until enough additional information accumulates to justify the next revision,” added E. Steve Roach, MD, Editor-in-Chief, Pediatric Neurology. The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. Formed in 1974, the TS Alliance is the only U.S.-based non-profit organization dedicated to finding a cure for TSC while improving the lives of those affected. Presentation and diagnosis of tuberous sclerosis complex in infants. Because TSC involves multiple systems in the body, the conference included specialists in genetics, neurology, epilepsy, cardiology, neurodevelopment and behavior, dermatology, dentistry, nephrology, pulmonology, ophthalmology, gastroenterology, endocrinology and others. Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. In up to 90 % of Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. Dermatologic manifesta-tions include facial angiofibromas, hypomelanotic macules, fibrous cephalic plaques, shagreen patches, and ungual fibromas. Or Sign In to Email Alerts with your Email Address, Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders, DOI: https://doi.org/10.1542/pir.2015-0118, To check if your institution is supported, please see, Iron Deficiency: Implications Before Anemia, Review of Scabies Infestation and Selected Common Cutaneous Infections, Pediatric Ingestions: New High-Risk Household Hazards, Follow American Academy of Pediatrics on Instagram, Visit American Academy of Pediatrics on Facebook, Follow American Academy of Pediatrics on Twitter, Follow American Academy of Pediatrics on Youtube. Tuberous Sclerosis Complex Autism Center of Excellence Research Network. Conclusion: Tuberous sclerosis also known as Bourneville pringle disease is an autosomal dominant genetic disease that is characterised by the presence of multiple hamartomas in various organs. Tumors grow most often in the brain, skin, heart, eyes, kidneys and lungs. International Tuberous Sclerosis Complex Consensus Conference Group (ITSCC) grading system for recommendations . Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. deVries PJ et al. E. Martina Bebin, MD[†][2] 1. 1. Tuberous sclerosis is a rare genetic disorder that causes noncancerous (benign) tumors ― unexpected overgrowths of normal tissue ― in parts of the body. tuberous sclerosis complex TSC-associated seizures often start in infancy, and include focal seizures and infantile spasms. If you have a subscription you may use the login form below to view the article. Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. Dr Korf has disclosed that he is coinvestigator on NIH grant 08-UTR001417A for the University of Alabama’s Center for Clinical and Translational Science; principal investigator on Department of Defense NF Clinical Trials Consortium grant W81XWH-12-1-0155; and consultant for Astrazeneca, Novartis, Alexion, Illumina, and Accolade. 2017 Dec; 140 (6):e20164040. Several of these patients had evidence of abnormal pituitary adrenal function; two had thyroid disorders; five had abnormal responses to intravenous glucose tolerance tests; and all seven patients had high serum alkaline phosphatase levels. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. The TS Alliance encourages sharing these links, or a link to www.tsalliance.org/consensuswith healthcare providers. deVries PJ et al. INTRODUCTION. These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction ( autism spectrum disorder ). For more details about the new TSC clinical consensus guidelines, visit www.tsalliance.org/consensus. Tuberous sclerosis is a rare genetic disorder that causes noncancerous (benign) tumors ― unexpected overgrowths of normal tissue ― in parts of the body. Von Recklinghausen first described tuberous sclerosis in 1862. Background: Tuberous sclerosis complex (TSC) is a rare genetic disease which leads to formation of benign tumors in the brain and other organs of the body. … This article requires a subscription to view the full text. Background: Tuberous sclerosis is an autosomal‐dominant inherited disease involving many organs of the body. Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired. University of Texas Health Science Center at Houston . Pediatr Neurol . The American Academy of Pediatrics has published updated guidelines for diagnosis and treatment of autism spectrum disorder. We believe these new clinical consensus guidelines will improve the quality of life of everyone touched by this disorder.”. This guideline sets out recommendations developed by UK-based experts on TSC. Any future updates to these recommendations will also be posted on this page. category of recommendation . Tuberous sclerosis is a highly variable disorder. Pediatr Neurol . Pay Per Article - You may access this article (from the computer you are currently using) for 2 days for US$25.00. You may be able to gain access using your login credentials for your institution. Access to this article can also be purchased. ICD-10-CM Code for Tuberous sclerosis Q85.1 ICD-10 code Q85.1 for Tuberous sclerosis is a medical classification as listed by WHO under the range - Congenital malformations, deformations and chromosomal abnormalities . Silver Spring, MD—Today, the Tuberous Sclerosis Alliance (TS Alliance) formally announced newly updated clinical consensus guidelines for the diagnosis, surveillance and management of tuberous sclerosis complex (TSC). © American Academy of Pediatrics, 2017. The Tuberous Sclerosis Alliance announced newly updated consensus guidelines for the diagnosis, surveillance, and management of tuberous sclerosis complex (TSC). Tuberous sclerosis complex (TSC) is a genetic disease affecting multiple systems of the body, which can present in various ways in pediatric patients to pediatric providers. Tuberous Sclerosis Complex (TSC): Genetics and Care Guidelines Hope Northrup, MD Director, Division of Medical Genetics . Professor, Department of Pediatrics. 49(4):255-265. 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