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Tiffany Yorks of Clearwater, Florida (May 7, 1988 – February 24, 2016) [13] underwent successful surgery in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She had mobility issues due to her fragile leg bones and compensated by using crutches or a wheelchair.
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to affect only 120 people worldwide, [ 1 ] but more recent diagnoses ...
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Michelin tire baby syndrome (also known as Kunze–Riehm syndrome [1] and "folded skin with scarring" [2]: 625 ), is a condition occurring in babies that is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life.
The diagnosis of amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a ...
Idiopathic orbital inflammatory (IOI) disease refers to a marginated mass-like enhancing soft tissue involving any area of the orbit.It is the most common painful orbital mass in the adult population, and is associated with proptosis, cranial nerve palsy (Tolosa–Hunt syndrome), uveitis, and retinal detachment.
A vascular anomaly is any of a range of lesions from a simple birthmark to a large tumor that may be disfiguring. They are caused by a disorder of the vascular system . [ 1 ] A vascular anomaly is a localized defect in blood vessels or lymph vessels .
The result is edema, pain and a white appearance (alba) of the leg. The next step in the disease progression is occlusion of the superficial venous system, thereby preventing all venous outflow from the extremity. At this stage it is called phlegmasia cerulea dolens. The leg becomes more swollen and increasingly more painful.