title: Evaluation of the adolescent or adult with some features of Marfan syndrome.
abstract: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticists should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Individuals who are suspected of having Marfan syndrome are often referred to a medical geneticist for further evaluation and diagnosis. However, there are a number of conditions that share physical manifestations with those of Marfan syndrome; therefore, an approach to diagnosis and evaluation is crucial to the proper long-term follow-up of these individuals. This practice guideline provides guidance for the approach to this cadre of individuals.
authors.affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. reed.pyeritz@uphs.upenn.edu
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis*