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A less common variant of pectus carinatum is pectus arcuatum (also called type 2 pectus excavatum, chondromanubrial malformation or Currarino–Silverman syndrome or pouter pigeon malformation), which produces a manubrial and upper sternal protrusion, [2] particularly also at the sternal angle. [3]
It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment.
The specific molecular mechanism that underpins this movement disorder is not well known. [2] However, most researchers suggest that it follows an autosomal dominant genetic inheritance pattern in which mutations in certain genes give rise to structural abnormalities in nervous system networks responsible for voluntary skeletal muscle movement, which, in turn, result in the functional movement ...
Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. [4] It was first reported in the early 20th century. [5] It typically becomes apparent between the ages of 3 months and 12 years. [6]
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2 ]
Yellow Veil Pictures and Vinegar Syndrome announced have co-acquired North American rights for “Riddle of Fire,” the feature debut of writer and director Weston Razooli. The movie follows ...
R obert F. Kennedy, Jr., President Trump’s nominee to lead the U.S. Department of Health and Human Services, speaks with a raspy quiver in his voice. That’s because he has spasmodic dysphonia ...
Webbed penis also known as buried or concealed penis is an acquired or congenital condition in which the scrotal skin extends onto the ventral penile shaft. The penile shaft is buried in the scrotum or tethered to the scrotal midline by a fold or web of skin.