{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:51Z","timestamp":1792166751133,"version":"4.4.0"},"reference-count":52,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Seminars in Perinatology"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1053\/j.semperi.2012.11.002","type":"journal-article","created":{"date-parts":[[2013,2,18]],"date-time":"2013-02-18T15:09:43Z","timestamp":1361200183000},"page":"40-48","source":"Crossref","is-referenced-by-count":14,"title":["Cutaneous vascular anomalies in the neonatal period"],"prefix":"10.1053","volume":"37","author":[{"given":"Kristen P.","family":"Hook","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.semperi.2012.11.002_bib1","series-title":"Vascular Birthmarks: Hemangiomas and Vascular Malformations","year":"1988"},{"issue":"2","key":"10.1053\/j.semperi.2012.11.002_bib2","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.sder.2004.01.002","article-title":"SWS. Sturge\u2013Weber Syndrome","volume":"23","author":"Baselga","year":"2004","journal-title":"Semin Cutan Med Surg"},{"key":"10.1053\/j.semperi.2012.11.002_bib3","first-page":"641","article-title":"Du naevus variqueux osteo-hypertrophique","volume":"185","author":"Klippel","year":"1900","journal-title":"Arch Gen Med"},{"issue":"6","key":"10.1053\/j.semperi.2012.11.002_bib4","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1002\/bjs.1800820615","article-title":"Klippel\u2013Trenaunay syndrome: clinical features, complications and management in children","volume":"82","author":"Samuel","year":"1995","journal-title":"Br J Surg"},{"issue":"3-4","key":"10.1053\/j.semperi.2012.11.002_bib5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1159\/000059343","article-title":"Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome","volume":"95","author":"Wang","year":"2001","journal-title":"Cytogenet Cell Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib6","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/ajmg.1320590416","article-title":"Klippel\u2013Trenaunay\u2013Weber syndrome associated with a 5:11 balanced translocation","volume":"59","author":"Whelan","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib7","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<319::AID-AJMG15>3.0.CO;2-U","article-title":"Klippel\u2013Trenaunay Syndrome","volume":"79","author":"Berry","year":"1998","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1053\/j.semperi.2012.11.002_bib8","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.jaad.2003.12.017","article-title":"Klippel\u2013Tr\u00e9naunay syndrome: the importance of \"geographic stains\" in identifying lymphatic disease and risk of complications","volume":"51","author":"Maari","year":"2004","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"10.1053\/j.semperi.2012.11.002_bib9","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1046\/j.1365-2257.2002.00447.x","article-title":"Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kassabach\u2013Merritt Syndrome","volume":"24","author":"Mazoyer","year":"2002","journal-title":"Clin Lab Haematol"},{"issue":"7","key":"10.1053\/j.semperi.2012.11.002_bib10","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1002\/humu.20746","article-title":"Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations","volume":"29","author":"Revencu","year":"2008","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1053\/j.semperi.2012.11.002_bib11","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1159\/000246865","article-title":"Angiodysplastic syndrome with capillary and venous malformation associated with soft tissue hypotrophy","volume":"189","author":"Bircher","year":"1994","journal-title":"Dermatology"},{"key":"10.1053\/j.semperi.2012.11.002_bib12","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1086\/379793","article-title":"Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations","volume":"73","author":"Eerola","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib13","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1111\/j.1365-2133.2008.08493.x","article-title":"RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations","volume":"158","author":"Hershkovitz","year":"2008","journal-title":"Br J Derm"},{"key":"10.1053\/j.semperi.2012.11.002_bib14","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1159\/000321331","article-title":"The rhodoid nevus: a proposed term for a so far unnamed capillary malformation","volume":"221","author":"Happle","year":"2010","journal-title":"Dermatology"},{"issue":"375","key":"10.1053\/j.semperi.2012.11.002_bib15","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1136\/pgmj.33.375.7","article-title":"Congenital arteriovenous fistulae of the extremities","volume":"32","author":"Robertson","year":"1957","journal-title":"Postgrad Med J"},{"key":"10.1053\/j.semperi.2012.11.002_bib16","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<67::AID-AJMG13>3.0.CO;2-V","article-title":"Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormality","volume":"70","author":"Moore","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib17","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1097\/00019605-199710000-00001","article-title":"Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome","volume":"6","author":"Clayton-Smith","year":"1997","journal-title":"Clin Dysmorph"},{"key":"10.1053\/j.semperi.2012.11.002_bib18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S","article-title":"Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?","volume":"90","author":"Franceschini","year":"2000","journal-title":"Am J Med Genet"},{"issue":"1","key":"10.1053\/j.semperi.2012.11.002_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00019605-200009010-00001","article-title":"Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature","volume":"9","author":"Robertson","year":"2000","journal-title":"Clin Dysmorphol"},{"key":"10.1053\/j.semperi.2012.11.002_bib20","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.a.30235","article-title":"Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review","volume":"130","author":"Lapunzina","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"3","key":"10.1053\/j.semperi.2012.11.002_bib21","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1001\/archdermatol.2008.545","article-title":"The misnomer \u201cmacrocephaly-cutis marmorata telangiectatica syndrome\u201d","volume":"145","author":"Wright","year":"2008","journal-title":"Arch Dermatol 2009"},{"issue":"12","key":"10.1053\/j.semperi.2012.11.002_bib22","doi-asserted-by":"crossref","first-page":"3101","DOI":"10.1002\/ajmg.a.33514","article-title":"Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria","volume":"152A","author":"Mart\u00ednez-Glez","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1053\/j.semperi.2012.11.002_bib23","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.a.34402","article-title":"Megalencephaly-capillary malformation (MCAP) and megalencephalypolydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis","volume":"158A","author":"Mirzaa","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1053\/j.semperi.2012.11.002_bib24","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1002\/ajmg.a.32732","article-title":"Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes","volume":"149A","author":"Gripp","year":"2009","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib25","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1002\/ajmg.a.32040","article-title":"Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients","volume":"143A","author":"Conway","year":"2007","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1053\/j.semperi.2012.11.002_bib26","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/j.1525-1470.2011.01677.x","article-title":"Macrocephaly-capillarymalformation presenting with fetal arrhythmia","volume":"29","author":"Kuint","year":"2012","journal-title":"Pediatr Dermatol"},{"key":"10.1053\/j.semperi.2012.11.002_bib27","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/S0022-3468(67)80003-4","article-title":"Exomphalos with macroglossia: a study of eleven cases","volume":"2","author":"Irving","year":"1967","journal-title":"J Pediatr Surg"},{"key":"10.1053\/j.semperi.2012.11.002_bib28","first-page":"1","article-title":"The 'E.M.G.' syndrome (exomphalos, macroglossia, gigantism)","volume":"1","author":"Irving","year":"1970","journal-title":"Prog Pediatr Surg"},{"key":"10.1053\/j.semperi.2012.11.002_bib29","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/ajmg.1320560405","article-title":"Longitudinal observations on 15 children with Wiedemann\u2013Beckwith syndrome","volume":"56","author":"Weng","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib30","doi-asserted-by":"crossref","first-page":"733","DOI":"10.2214\/ajr.171.3.9725306","article-title":"Nonmalignant renal disease in pediatric patients with Beckwith\u2013Wiedemann syndrome","volume":"171","author":"Choyke","year":"1998","journal-title":"Am J Roentgen"},{"key":"10.1053\/j.semperi.2012.11.002_bib31","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1067\/mpd.2003.82","article-title":"Hypercalciuria in Beckwith\u2013Wiedemann syndrome","volume":"142","author":"Goldman","year":"2003","journal-title":"J Pediatr"},{"key":"10.1053\/j.semperi.2012.11.002_bib32","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/BF00858531","article-title":"Beckwith\u2013Wiedemann syndrome and its association with type III polycystic kidney disease","volume":"3","author":"Mulvihill","year":"1989","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.semperi.2012.11.002_bib33","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2009.106","article-title":"Beckwith\u2013Wiedemann syndrome","volume":"18","author":"Weksberg","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib34","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF00282078","article-title":"Wiedemann\u2013Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature","volume":"74","author":"Pettenati","year":"1986","journal-title":"Hum Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib35","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF00496807","article-title":"Tumours and hemihypertrophy associated with Wiedemann\u2013Beckwith syndrome","volume":"141","author":"Wiedemann","year":"1983","journal-title":"Eur J Pediatr"},{"key":"10.1053\/j.semperi.2012.11.002_bib36","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/S0022-3476(98)70008-3","article-title":"Risk of cancer during the first four years of life in children from the Beckwith\u2013Wiedemann Syndrome Registry","volume":"132","author":"DeBaun","year":"1998","journal-title":"J Pediatr"},{"key":"10.1053\/j.semperi.2012.11.002_bib37","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S0022-3476(98)70001-0","article-title":"Children at increased risk for Wilms tumor: monitoring issues. (Editorial)","volume":"132","author":"Beckwith","year":"1998","journal-title":"J Pediatr"},{"key":"10.1053\/j.semperi.2012.11.002_bib38","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320320223","article-title":"Genital overgrowth in the EMG syndrome","volume":"32","author":"Wiedemann","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.semperi.2012.11.002_bib39","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/BF00451969","article-title":"Wiedemann\u2013Beckwith syndrome and hypothyroidism","volume":"144","author":"Leung","year":"1985","journal-title":"Eur J Pediatr"},{"key":"10.1053\/j.semperi.2012.11.002_bib40","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/j.1399-0004.1989.tb03202.x","article-title":"EMG-syndrome and hypothyroidism","volume":"36","author":"Leung","year":"1989","journal-title":"Clin Genet"},{"issue":"7","key":"10.1053\/j.semperi.2012.11.002_bib41","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJMoa1104017","article-title":"A mosaic activating mutation in AKT1 associated with the Proteus syndrome","volume":"365","author":"Lindhurst","year":"2011","journal-title":"N Engl J Med"},{"issue":"7","key":"10.1053\/j.semperi.2012.11.002_bib42","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1001\/archderm.144.7.861","article-title":"Coagulations disorders in patients with venous malformations of the limbs and trunk. A case series of 118 patients","volume":"144","author":"Mazoyer","year":"2008","journal-title":"Arch Dermatol"},{"issue":"7","key":"10.1053\/j.semperi.2012.11.002_bib43","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1001\/archderm.144.7.873","article-title":"Association of Localized Intravascular Coagulopathy with Venous Malformations","volume":"144","author":"Dompmartin","year":"2008","journal-title":"Arch Dermatol"},{"issue":"11","key":"10.1053\/j.semperi.2012.11.002_bib44","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1001\/archdermatol.2009.296","article-title":"Elevated D-dimer in the differential diagnosis of venous malformations","volume":"145","author":"Dompmartin","year":"2009","journal-title":"Arch Dermatol"},{"issue":"11","key":"10.1053\/j.semperi.2012.11.002_bib45","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1001\/archdermatol.2009.297","article-title":"Comment: relevance of D-dimer testing in patients with venous malformations","volume":"145","author":"Maguiness","year":"2009","journal-title":"Arch Dermatol"},{"issue":"3","key":"10.1053\/j.semperi.2012.11.002_bib46","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/bjs.1800720331","article-title":"The Klippel\u2013Trenaunay syndrome: clinical, radiologic and hemodynamic features and management","volume":"72","author":"Bakersville","year":"1985","journal-title":"Br J Surg"},{"issue":"12","key":"10.1053\/j.semperi.2012.11.002_bib47","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1001\/archdermatol.2010.379","article-title":"Pulmonary arterial hypertension in patient with slow-flow vascular malformations","volume":"146","author":"Rodriguez-manero","year":"2010","journal-title":"Arch Dermatol"},{"issue":"4","key":"10.1053\/j.semperi.2012.11.002_bib48","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1159\/000063270","article-title":"Elevation of ELISA D-dimer levels in patients with primary pulmonary hypertension","volume":"69","author":"Shitrit","year":"2002","journal-title":"Respiration"},{"issue":"5","key":"10.1053\/j.semperi.2012.11.002_bib49","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1378\/chest.122.5.1674","article-title":"Significance of plasma D-dimer test in patients with primary pulmonary hypertension","volume":"122","author":"Shitrit","year":"2002","journal-title":"Chest"},{"issue":"4","key":"10.1053\/j.semperi.2012.11.002_bib50","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1177\/107602960200800407","article-title":"Endothelial dysfunction associated with chronic intravascular coagulation in secondary pulmonary hypertension","volume":"8","author":"Lopes","year":"2002","journal-title":"Clin Appl Thromb Hemost"},{"key":"10.1053\/j.semperi.2012.11.002_bib51","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1001\/archderm.137.12.1607","article-title":"Congenital nonprogressive hemangioma: a distinct clinicopathologic entity unlike infantile hemangioma","volume":"137","author":"North","year":"2001","journal-title":"Arch Dermatol"},{"key":"10.1053\/j.semperi.2012.11.002_bib52","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s10024-003-2134-6","article-title":"Rapidly involuting congenital hemangioma: clinical and histopathologic features","volume":"6","author":"Berenguer","year":"2003","journal-title":"Pediatr Dev Pathol"}],"container-title":["Seminars in Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S014600051200119X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S014600051200119X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T16:58:13Z","timestamp":1539881893000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S014600051200119X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["S014600051200119X"],"URL":"https:\/\/doi.org\/10.1053\/j.semperi.2012.11.002","relation":{},"ISSN":["0146-0005"],"issn-type":[{"value":"0146-0005","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2]]}}}