{"id":"https://openalex.org/W4244677370","doi":"https://doi.org/10.1002/ajmg.a.32327","title":"Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge\u2013Weber and Klippel\u2013Trenaunay syndromes","display_name":"Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge\u2013Weber and Klippel\u2013Trenaunay syndromes","publication_year":2008,"publication_date":"2008-03-24","ids":{"openalex":"https://openalex.org/W4244677370","doi":"https://doi.org/10.1002/ajmg.a.32327"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.32327","doi":"https://doi.org/10.1002/ajmg.a.32327","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.a.32327","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32327","source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32327","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021404375","display_name":"Bryan D. Hall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143302722","display_name":"University of Kentucky","ror":"https://ror.org/02k3smh20","country_code":"US","type":"education","lineage":["https://openalex.org/I143302722"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Bryan D. Hall","raw_affiliation_strings":["Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky","institution_ids":["https://openalex.org/I143302722"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009110470","display_name":"Ronald G. Cadle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143302722","display_name":"University of Kentucky","ror":"https://ror.org/02k3smh20","country_code":"US","type":"education","lineage":["https://openalex.org/I143302722"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ronald G. Cadle","raw_affiliation_strings":["Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky","institution_ids":["https://openalex.org/I143302722"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066905231","display_name":"Shannon M. Morrill\u2010Cornelius","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143302722","display_name":"University of Kentucky","ror":"https://ror.org/02k3smh20","country_code":"US","type":"education","lineage":["https://openalex.org/I143302722"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shannon M. Morrill\u2010Cornelius","raw_affiliation_strings":["Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky","institution_ids":["https://openalex.org/I143302722"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103477181","display_name":"Carolyn A. Bay","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143302722","display_name":"University of Kentucky","ror":"https://ror.org/02k3smh20","country_code":"US","type":"education","lineage":["https://openalex.org/I143302722"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carolyn A. Bay","raw_affiliation_strings":["Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky","institution_ids":["https://openalex.org/I143302722"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5021404375"],"corresponding_institution_ids":["https://openalex.org/I143302722"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.7302,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.77154295,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"146A","issue":"7","first_page":"945","last_page":"951"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/phakomatosis-pigmentovascularis","display_name":"phakomatosis pigmentovascularis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/mongolian-spot","display_name":"Mongolian spot","score":0.9470000267028809},{"id":"https://openalex.org/keywords/sturge-weber-syndrome","display_name":"Sturge-Weber syndrome","score":0.9599999785423279},{"id":"https://openalex.org/keywords/klippel-trenaunay-syndrome","display_name":"Klippel-Trenaunay syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/port-wine-stain","display_name":"port-wine stain","score":0.9660000205039978},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.6119999885559082},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.7229999899864197},{"id":"https://openalex.org/keywords/hydrocephalus","display_name":"hydrocephalus","score":0.9340000152587891},{"id":"https://openalex.org/keywords/chiari-malformation","display_name":"Chiari malformation","score":0.9610000252723694},{"id":"https://openalex.org/keywords/polymicrogyria","display_name":"polymicrogyria","score":0.9940000176429749},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.796999990940094},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.890999972820282},{"id":"https://openalex.org/keywords/syndactyly","display_name":"syndactyly","score":0.6970000267028809},{"id":"https://openalex.org/keywords/dysmorphology","display_name":"dysmorphology","score":0.5170000195503235}],"concepts":[{"id":"https://openalex.org/C2781083543","wikidata":"https://www.wikidata.org/wiki/Q635339","display_name":"Macrocephaly","level":2,"score":0.6307264566421509},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6108373403549194},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.5980572700500488},{"id":"https://openalex.org/C2777202849","wikidata":"https://www.wikidata.org/wiki/Q1360044","display_name":"Syndactyly","level":2,"score":0.505952775478363},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.4669341444969177},{"id":"https://openalex.org/C2778596996","wikidata":"https://www.wikidata.org/wiki/Q2991265","display_name":"Polymicrogyria","level":3,"score":0.42101287841796875},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3416181206703186},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.32333630323410034},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.26073911786079407},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/ajmg.a.32327","doi":"https://doi.org/10.1002/ajmg.a.32327","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.a.32327","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32327","source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1002/ajmg.a.32327","doi":"https://doi.org/10.1002/ajmg.a.32327","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.a.32327","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32327","source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9789000153541565,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4244677370.pdf","grobid_xml":"https://content.openalex.org/works/W4244677370.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W1969490622","https://openalex.org/W1970407284","https://openalex.org/W1978139286","https://openalex.org/W1982548536","https://openalex.org/W2021863194","https://openalex.org/W2032034816","https://openalex.org/W2036012795","https://openalex.org/W2042720455","https://openalex.org/W2051814149","https://openalex.org/W2072160681","https://openalex.org/W2086568579","https://openalex.org/W2088157322","https://openalex.org/W2113395467","https://openalex.org/W2126804467","https://openalex.org/W2162330985","https://openalex.org/W2312646078","https://openalex.org/W4229823557","https://openalex.org/W4237454612","https://openalex.org/W4238564251","https://openalex.org/W4249974315"],"related_works":["https://openalex.org/W2021863194","https://openalex.org/W7217143109","https://openalex.org/W2554199959","https://openalex.org/W1981232086","https://openalex.org/W2947035434","https://openalex.org/W2055848481","https://openalex.org/W2061018298","https://openalex.org/W1968986735","https://openalex.org/W2063911429","https://openalex.org/W2954454698"],"abstract_inverted_index":{"Abstract":[0],"In":[1],"1947":[2],"the":[3,12,40,71,152],"term":[4],"phakomatosis":[5],"pigmentovascularis":[6],"(PPV)":[7],"was":[8],"coined":[9],"to":[10],"represent":[11],"association":[13],"of":[14,26,47,80,93,98,154,180,182],"widespread,":[15],"aberrant,":[16],"and":[17,21,36,60,91,100,105,119,127,140,148,157,168],"persistent":[18],"nevus":[19],"flammeus":[20,35],"pigmentary":[22],"abnormalities.":[23],"Four":[24,102,109],"types":[25],"PPV":[27,81],"have":[28,68],"been":[29],"recognized":[30],"with":[31,57,114,117,121],"type":[32],"II":[33],"(nevus":[34],"Mongolian":[37,159],"spots)":[38],"being":[39],"most":[41],"common.":[42],"Most":[43],"early":[44],"cases":[45,53,79],"were":[46,54,85],"Asian":[48,88],"or":[49,73,89,185,188],"African":[50,186],"descent.":[51],"Many":[52],"subsequently":[55],"associated":[56],"Sturge\u2013Weber":[58],"(S\u2010W)":[59],"Klippel\u2013Trenaunay":[61],"(K\u2010T)":[62],"syndromes.":[63],"Almost":[64],"no":[65],"literature":[66],"reports":[67],"appeared":[69],"in":[70,82,151,166],"genetic":[72],"dysmorphology":[74],"literature!":[75],"We":[76],"present":[77],"six":[78,94],"which":[83],"five":[84,92],"either":[86,179],"African,":[87],"Hispanic,":[90],"had":[95,103,107,110,124,129,133],"an":[96],"admixture":[97],"K\u2010T":[99,167],"S\u2010W.":[101],"macrocephaly,":[104],"one":[106,116,120,128],"microcephaly.":[108],"CNS":[111],"abnormalities":[112,162],"(three":[113],"hydrocephalus,":[115],"Arnold\u2013Chiari":[118],"polymicrogyria),":[122],"three":[123],"mental":[125],"retardation,":[126],"seizures.":[130],"One":[131],"each":[132],"thumb":[134],"hypoplasia,":[135],"hydronephrosis,":[136],"glaucoma,":[137],"coronal":[138],"synostosis,":[139],"3\u20134":[141],"finger":[142],"syndactyly.":[143],"It":[144],"is":[145],"our":[146],"suspicion":[147],"hypothesis":[149],"that":[150],"presence":[153],"persistent,":[155],"extensive":[156],"aberrant":[158],"spots,":[160],"vascular":[161],"as":[163],"are":[164],"seen":[165],"S\u2010W":[169],"carry":[170],"a":[171],"worse":[172],"prognosis.":[173],"This":[174],"may":[175],"be":[176],"particularly":[177],"true":[178],"children":[181],"Asian,":[183],"Hispanic":[184],"heritage":[187],"any":[189],"individuals":[190],"from":[191],"darker":[192],"pigmented":[193],"skin":[194],"groups.":[195],"\u00a9":[196],"2008":[197],"Wiley\u2010Liss,":[198],"Inc.":[199]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-05-12T00:00:00"}