Revised diagnostic criteria for the Marfan syndrome

American Journal of Medical Genetics
A De PaepeR E Pyeritz


In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of Marfan syndrome; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes.


Jun 24, 2014·Orphanet Journal of Rare Diseases·Dmitrij AchelrodTom Stargardt
Jan 1, 2008·Future Cardiology·Yskert Von KodolitschPeter N Robinson
Jun 27, 2013·Radiology·Alexander W den HartogMaarten Groenink
Jul 11, 2007·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Hong Il HaMyung Jin Shin
Oct 1, 2007·Biomarkers in Medicine·Mahyar Khaleghi, Iftikhar J Kullo
Apr 12, 2014·BMC Cardiovascular Disorders·Bence ÁggZoltán Szabolcs
Feb 7, 2014·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·Florian S SchoenhoffThierry Carrel
Jan 20, 2010·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Eric T Kimura-HayamaCelia P Corona-Villalobos
May 23, 2009·AJNR. American Journal of Neuroradiology·Rigmor LundbyH-J Smith
Jan 1, 2011·Case Reports in Ophthalmological Medicine·Mihir KothariBhavesh Mithiya
Feb 21, 1998·Nucleic Acids Research·Gwenaëlle Collod-BéroudC Boileau
Jun 4, 1998·Journal of Medical Genetics·A Van Tongerloo, A De Paepe
May 18, 1999·Archives of Disease in Childhood·R Grahame
Nov 18, 2000·Heart·T Treasure
Feb 13, 2001·Archives of Disease in Childhood·C D van KarnebeekM Offringa
Jul 17, 2001·Heart·R Erbel
Jun 18, 2002·Heart·John C S Dean
Oct 31, 2002·European Journal of Human Genetics : EJHG·Gwenaëlle Collod-Béroud, C Boileau
Nov 26, 2002·The British Journal of Ophthalmology·P ComeglioA H Child
Apr 18, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·W M H BehanD G F Harriman
Jan 14, 2000·Journal of Medical Genetics·Peter N Robinson, M Godfrey
Jul 6, 2004·Nature Genetics·Takeshi MizuguchiNaomichi Matsumoto
Mar 31, 2006·Journal of Medical Genetics·Peter N RobinsonM Godfrey
Mar 3, 2007·Nature Clinical Practice. Cardiovascular Medicine·Scott A LeMaireDianna M Milewicz
Mar 23, 2007·Archives of Disease in Childhood·Alan Graham Stuart, Andrew Williams
May 16, 2007·Heart·Yskert Von Kodolitsch, Peter N Robinson
Oct 25, 2007·Journal of Cardiothoracic Surgery·Rupert A PayneMartin A Denvir
Jun 27, 2008·The New England Journal of Medicine·Benjamin S BrookeH C Dietz
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Angela E LinBarbara R Pober
Aug 16, 2008·American Journal of Respiratory and Critical Care Medicine·Richard D KimSteven M Holland
Aug 30, 2008·HSS Journal : the Musculoskeletal Journal of Hospital for Special Surgery·Philip F GiampietroCathleen L Raggio
Sep 4, 2008·Journal of Vascular Research·Jeffrey A JonesJohn S Ikonomidis
Oct 2, 2008·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·J J J AalbertsJ P van Tintelen
Oct 30, 2008·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·W TanisF H de Man
Mar 19, 2009·European Journal of Human Genetics : EJHG·Svend Rand-HendriksenOdd Geiran
Dec 2, 2009·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·J C VisBarbara J M Mulder
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Jan H N LindemanTjerk H Oosterkamp
Feb 25, 2010·European Journal of Human Genetics : EJHG·Julie DésirMarc Abramowicz


Apr 5, 1979·The New England Journal of Medicine·R E Pyeritz, V A McKUSICK
Oct 4, 1990·The New England Journal of Medicine·K KainulainenL Peltonen
Mar 15, 1989·Journal of the American College of Cardiology·P NicodK L Peterson
Sep 1, 1989·The American Journal of Cardiology·M J RomanJ O'Loughlin
Feb 1, 1989·The American Journal of Cardiology·M J RomanM C Spitzer
Jan 1, 1987·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·T Savunen
Mar 1, 1988·American Journal of Medical Genetics·P BeightonV A McKUSICK
Aug 1, 1988·Journal of Neurosurgery·W E Stern
Aug 1, 1987·Radiology·J E KuhlmanS S Siegelman
May 1, 1966·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·I Steinberg
Jun 1, 1984·The Annals of Thoracic Surgery·J R HallJ A Haller
Dec 1, 1982·Annals of Internal Medicine·R B DevereuxI Sachs
Nov 1, 1994·Nature Genetics·G CollodC Boileau
Mar 1, 1995·Nature Genetics·H C DietzR E Pyeritz
Jun 1, 1995·The Journal of Bone and Joint Surgery. American Volume·P D SponsellerR E Pyeritz
Jan 15, 1995·The American Journal of Cardiology·D I SilvermanP Tsipouras
Aug 1, 1994·Journal of Medical Genetics·D Viljoen
Jul 21, 1994·The New England Journal of Medicine·L PereiraH C Dietz
Nov 1, 1993·Journal of the American College of Cardiology·M J RomanR B Devereux

Related Concepts

Marfan Syndrome

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Related Papers

International Journal of Clinical Practice
A HasanA H Child
The Journal of Spinal Cord Medicine
Paul M Arnold, Jan Teuber
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
S MaedaB D Boyan
© 2020 Meta ULC. All rights reserved