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Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome [1] and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, [2] is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly.
These include Klippel–Trenaunay syndrome, macrocephaly-capillary malformation syndrome, cutis marmorata telangiectatica congenita, CLOVES syndrome (congenital lipomatous overgrowth, vascular malformation, epidermal nevus, scoliosis), and Proteus syndrome.
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
PIK3CA gene codes for p110α protein which is a catalytic subunit of phosphoinositide 3-kinase, a major regulator of several important cellular functions such as cell proliferation, growth and apoptosis. [4]
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Primary lymphedema may be congenital or may arise sporadically. Multiple syndromes are associated with primary lymphedema, including Turner syndrome, Milroy's disease, and Klippel–Trénaunay syndrome. In these syndromes it may occur as a result of absent or malformed lymph nodes or lymphatic channels.
In late October, Eldiara Doucette found out she only had five days left with her arm. The 22-year-old's synovial sarcoma − a rare cancer that affects soft tissue − had returned. Her hospital's ...
Klippel–Trénaunay syndrome; Sturge–Weber syndrome; Histology. It is a vascular malformation wherein blood vessels proliferate along with accompanying mature fat ...