Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid
In addition to a greatly increased risk of thromboembolic events, clinical signs and symptoms include mental retardation, psychiatric disorders, ectopia lentis, and skeletal abnormalities such as osteoporosis and marfanoid
Physical examination was only significant for the patient's Marfanoid
Joint hypermobility syndrome is a genetically determined disorder of matrix proteins that is characterized by articular hyperextension, skin changes, marfanoid
body habitus, and other manifestations such as hernias and varicose veins.
MEN2B is associated with MTC, pheochromocytomas, ganglioneuromas, and a marfanoid
habitus with an earlier age of onset than MEN2A.
We found (Table 1) two patients with primary CBS deficiency: a 12-year-old girl with marfanoid
phenotype and cataracts and a 6-month-old male with fatal hemorrhagic infarct.
Hastaligin kliniginde marfanoid
gorunum, mental reterdasyon, nobetler, goz anomalileri, vaskuler tromboz ve iskemi siklikla gorulur (10).
Marfan syndrome was suspected owing to the marfanoid
features of Akhenaten and his family in statues.
Unusual complications in siblings with marfanoid
Hyperactivity and autistic retardation were reported with Lujan-Fryns syndrome, which is an X-linked mental retardation syndrome progressing with characteristics such as marfanoid
habitus, joint laxity, pectus excavatum, and kyphosis.
In addition to joint hypermobility, key diagnostic features include such skin changes as increased stretchiness, paper-thin scars, striae atrophicae, and features of a marfanoid
If treatment is started early, complications and Marfanoid
features can be ameliorated or even prevented.