Matches in SemOpenAlex for { <https://semopenalex.org/work/W1988673699> ?p ?o ?g. }
- W1988673699 endingPage "1733" @default.
- W1988673699 startingPage "1713" @default.
- W1988673699 abstract "Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed." @default.
- W1988673699 created "2016-06-24" @default.
- W1988673699 creator A5003682565 @default.
- W1988673699 creator A5011336907 @default.
- W1988673699 creator A5012179825 @default.
- W1988673699 creator A5013758087 @default.
- W1988673699 creator A5023547748 @default.
- W1988673699 creator A5031775133 @default.
- W1988673699 creator A5037782599 @default.
- W1988673699 creator A5037838904 @default.
- W1988673699 creator A5042514001 @default.
- W1988673699 creator A5043075977 @default.
- W1988673699 creator A5043648150 @default.
- W1988673699 creator A5049419220 @default.
- W1988673699 creator A5050173808 @default.
- W1988673699 creator A5053282806 @default.
- W1988673699 creator A5054126909 @default.
- W1988673699 creator A5058242474 @default.
- W1988673699 creator A5063003257 @default.
- W1988673699 creator A5064354843 @default.
- W1988673699 creator A5066555292 @default.
- W1988673699 creator A5070970254 @default.
- W1988673699 creator A5072682608 @default.
- W1988673699 creator A5076065669 @default.
- W1988673699 creator A5077477381 @default.
- W1988673699 creator A5078160338 @default.
- W1988673699 creator A5078419094 @default.
- W1988673699 creator A5080890031 @default.
- W1988673699 creator A5083774483 @default.
- W1988673699 creator A5086018687 @default.
- W1988673699 creator A5087761286 @default.
- W1988673699 creator A5088266320 @default.
- W1988673699 creator A5089125403 @default.
- W1988673699 date "2014-04-29" @default.
- W1988673699 modified "2023-10-12" @default.
- W1988673699 title "Clinical delineation and natural history of the <i>PIK3CA</i> ‐related overgrowth spectrum" @default.
- W1988673699 cites W1519644055 @default.
- W1988673699 cites W1732974236 @default.
- W1988673699 cites W1735040307 @default.
- W1988673699 cites W1964858208 @default.
- W1988673699 cites W1967187359 @default.
- W1988673699 cites W1979018723 @default.
- W1988673699 cites W1997842466 @default.
- W1988673699 cites W1999065747 @default.
- W1988673699 cites W2001999652 @default.
- W1988673699 cites W2011290663 @default.
- W1988673699 cites W2013482405 @default.
- W1988673699 cites W2016211783 @default.
- W1988673699 cites W2016778367 @default.
- W1988673699 cites W2016910640 @default.
- W1988673699 cites W2017848852 @default.
- W1988673699 cites W2018326393 @default.
- W1988673699 cites W2019071012 @default.
- W1988673699 cites W2025221656 @default.
- W1988673699 cites W2043751329 @default.
- W1988673699 cites W2068025786 @default.
- W1988673699 cites W2070119291 @default.
- W1988673699 cites W2070841378 @default.
- W1988673699 cites W2073015636 @default.
- W1988673699 cites W2079701909 @default.
- W1988673699 cites W2084841275 @default.
- W1988673699 cites W2087681059 @default.
- W1988673699 cites W2089354038 @default.
- W1988673699 cites W2089620648 @default.
- W1988673699 cites W2090853594 @default.
- W1988673699 cites W2099313880 @default.
- W1988673699 cites W2102033423 @default.
- W1988673699 cites W2104172078 @default.
- W1988673699 cites W2109799459 @default.
- W1988673699 cites W2123976982 @default.
- W1988673699 cites W2127112029 @default.
- W1988673699 cites W2129172946 @default.
- W1988673699 cites W2139584915 @default.
- W1988673699 cites W2140439371 @default.
- W1988673699 cites W2144040817 @default.
- W1988673699 cites W2144420455 @default.
- W1988673699 cites W2146414563 @default.
- W1988673699 cites W2147941657 @default.
- W1988673699 cites W2154692501 @default.
- W1988673699 cites W2164890061 @default.
- W1988673699 cites W2388163742 @default.
- W1988673699 doi "https://doi.org/10.1002/ajmg.a.36552" @default.
- W1988673699 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4320693" @default.
- W1988673699 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24782230" @default.
- W1988673699 hasPublicationYear "2014" @default.
- W1988673699 type Work @default.
- W1988673699 sameAs 1988673699 @default.
- W1988673699 citedByCount "239" @default.
- W1988673699 countsByYear W19886736992014 @default.
- W1988673699 countsByYear W19886736992015 @default.
- W1988673699 countsByYear W19886736992016 @default.
- W1988673699 countsByYear W19886736992017 @default.
- W1988673699 countsByYear W19886736992018 @default.
- W1988673699 countsByYear W19886736992019 @default.
- W1988673699 countsByYear W19886736992020 @default.
- W1988673699 countsByYear W19886736992021 @default.
- W1988673699 countsByYear W19886736992022 @default.
- W1988673699 countsByYear W19886736992023 @default.