Marfan syndrome: improved clinical history results in expanded natural history

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…Often forgotten are the personality attributes which allow many to benefit from the “gifts” of Turner syndrome. As noted in individuals with Marfan syndrome (Pyeritz, ), and applicable to Turner syndrome, improved clinical history and an expanded phenotype with age means that there will be additional clinical problems to be monitored, and often a need for more Turner syndrome specialists. There is a pressing need for research to obtain more information about lifespan, clinical issues, mental health, and access to care.…”

“…No longer a disorder familiar only to pediatricians, endocrinologists, and cardiologists, Turner syndrome is now more widely encountered by primary care providers and other internal medical specialists who therefore need to be well‐informed of their medical needs. There is great value in collecting and sharing longitudinal information as demonstrated by recent reviews about other syndromes including holoprosencephaly (Weiss et al, ); neurofibromatosis (Stewart, Korf, Nathanson, Stevenson, & Yohay, ); Marfan syndrome (Pyeritz, ); and Klinefelter syndrome (Gravholt et al, ).…”

A review of the biological and physical mechanisms underlying aortic aneurysm pathology

“…Phenotypically, MFS and LDS patients are fairly similar, both characterized by tall stature, scoliosis, ectopia lentis (dislocation of the ocular lens), and arachnodactyly (abnormally long fingers) and as such, LDS was once considered to be MFS "type 2." 30 Further, the two diseases share genetic similarities, with respective mutations belonging to the same general cascade ( Figure 6). MFS is defined by a Fibrillin-1 (FBN1) gene mutation, and LDS is comprised of four sub types, with mutually exclusive mutations of TGF-βR1, TGF-βR2, Smad3, and TGF-β2, classified in that order as types I-IV.…”

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

“…Which of the 14 major organ features manifest because of Marfan syndrome, and which occur in Marfan syndrome, mostly as a consequence of aging, medical therapy, lifestyle, or because the individual with Marfan syndrome has an additional, independent disease that origins from other etiologies than Marfan syndrome [377]?…”