{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:21:35Z","timestamp":1791379295866,"version":"4.3.2"},"reference-count":60,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Klippel\u2013Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel\u2013Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.<\/jats:p>","DOI":"10.3390\/children10081421","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T08:53:31Z","timestamp":1692608011000},"page":"1421","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Klippel\u2013Trenaunay Syndrome, Segmental\/Focal Overgrowth Malformations: A Review"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5600-9560","authenticated-orcid":false,"given":"Piero","family":"Pavone","sequence":"first","affiliation":[{"name":"Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy"},{"name":"National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Marino","sequence":"additional","affiliation":[{"name":"Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. \u201cPoliclinico-Vittorio Emanuele\u201d, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8909-3498","authenticated-orcid":false,"given":"Giovanni","family":"Cacciaguerra","sequence":"additional","affiliation":[{"name":"Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8960-4016","authenticated-orcid":false,"given":"Alessandra","family":"Di Nora","sequence":"additional","affiliation":[{"name":"Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Parano","sequence":"additional","affiliation":[{"name":"National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Polizzi","sequence":"additional","affiliation":[{"name":"Department of Educational Science, University of Catania, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[{"name":"Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. \u201cPoliclinico-Vittorio Emanuele\u201d, 95100 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,21]]},"reference":[{"key":"ref_1","unstructured":"Naganathan, S., and Tadi, P. 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