cardiovascular manifestation of a family with marfan’s syndrome

Cardiovascular Manifestation of a Family with Marfan’s Syndrome

Marfan's syndrome (MFS) is a genetic disorder associated with autosomal dominant inheritance. In MFS, the most prevalent cause of death is cardiovascular involvement. Here we introduce a family with a severe penetration of MFS. Eleven members of this family have MFS (father, two daughters, three sons, and five grandchildren). The most common cardiac involvement in our patients was mitral valve ...

A case of Marfans syndrome with aminoaciduria.

A family with Bart-Pumphrey syndrome

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...

Introduction of A Family With Gilbert\'s Syndrome in Iran

Chez une fillette de 8 ans, la decouverte d'une hyper-bilirubinemie indirecte, sans atteinte hepati­que, sans signe d'hemolyse. a conduit a une enquete farniliale.  Dans la famille paternelle, ii n 'existait aucun cas d'ictere, et le [aux de la bilirubinemie etait nJr­mal chez le pere et chez le grand-pere.  La bilirubinemie indirecte de la mere montrait une legere augmentation, celle d'un on...

Cardiovascular images. Chylotamponade: an unusual manifestation of Gorham-Stout syndrome.

Gorham-Stout syndrome is a rare disorder that leads to extensive lymphangiomatosis in bones with resorption of adjacent bone matrix. As a result, the disease is also known as massive osteolysis or “vanishing bone disease.” Although the disease primarily occurs in bone, it may also involve adjacent soft tissues. We report a case of Gorham-Stout syndrome presented with chylotamponade as a result ...

SAPHO syndrome with mandibular manifestation.

To cite: Baba A, Ojiri H, Takahashi S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015213401 DESCRIPTIONF A 47-year-old man was referred to our hospital due to symptoms of trismus and exacerbation of palmoplantar pustulosis. He had been presenting, for 20 years, with refractory and recurrent mandibular osteomyelitis accompanied by palmoplantar pustulos...