Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Sapp JC, Turner JT, van de Kamp JM et-al. It is associated with three different missense mutations in the PIK3CA gene and part of the PIK3CA-related overgrowth spectrum (PROS) 2. CNS manifestations, including neuronal migration defects, hemimegalencephaly, ventriculomegaly, dysgenesis of the corpus callosum, tethered spinal cord, and neural tube defects.truncal subcutaneous fatty overgrowth, most commonly located midline at the dorsal aspect of the chest 6.The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. Abnormalities have a truncal predominance. CLOVES syndrome is an acronym denoting a rare condition consisting of:Īlthough first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasising the skeletal abnormalities associated with the condition, is now preferred.
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