{"id":"https://openalex.org/W2776887199","doi":"https://doi.org/10.1177/1093526617701338","title":"Congenital Hypothalamic \u201cHamartoblastoma\u201d Versus \u201cHamartoma\u201d: Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome","display_name":"Congenital Hypothalamic \u201cHamartoblastoma\u201d Versus \u201cHamartoma\u201d: Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome","publication_year":2017,"publication_date":"2017-04-21","ids":{"openalex":"https://openalex.org/W2776887199","doi":"https://doi.org/10.1177/1093526617701338","mag":"2776887199","pmid":"https://pubmed.ncbi.nlm.nih.gov/28429635"},"language":"en","primary_location":{"id":"doi:10.1177/1093526617701338","doi":"https://doi.org/10.1177/1093526617701338","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1093526617701338","pdf_url":null,"source":{"id":"https://openalex.org/S125957187","display_name":"Pediatric and Developmental Pathology","issn_l":"1093-5266","issn":["1093-5266","1615-5742"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and Developmental Pathology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059000453","display_name":"Christopher P. Dunham","orcid":"https://orcid.org/0000-0002-6244-0584","observed_orcids":["https://orcid.org/0000-0002-6244-0584"]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"C Dunham","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020067742","display_name":"Deborah E. McFadden","orcid":"https://orcid.org/0000-0002-0629-3436","observed_orcids":["https://orcid.org/0000-0002-0629-3436"]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"D McFadden","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086335707","display_name":"Leanne S. Dahlgren","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"L Dahlgren","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072506252","display_name":"Blair Butler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"B Butler","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111656387","display_name":"Sara Jane Hamilton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"S Hamilton","raw_affiliation_strings":["Department of Medical Genetics, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073099975","display_name":"Margaret L. McKinnon","orcid":"https://orcid.org/0000-0002-3161-414X","observed_orcids":["https://orcid.org/0000-0002-3161-414X"]},"institutions":[{"id":"https://openalex.org/I4210121225","display_name":"Children's & Women's Health Centre of British Columbia","ror":"https://ror.org/01x69an44","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210121225"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"M McKinnon","raw_affiliation_strings":["Department of Medical Genetics, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Children and Women\u2019s Health Centre of BC, Vancouver, British Columbia, Canada","institution_ids":["https://openalex.org/I4210121225"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5059000453"],"corresponding_institution_ids":["https://openalex.org/I4210121225"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.3045,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.66360908,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"21","issue":"3","first_page":"324","last_page":"331"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.4343000054359436,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.4343000054359436,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10129","display_name":"Glioma Diagnosis and Treatment","score":0.20080000162124634,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T12009","display_name":"Hedgehog Signaling Pathway Studies","score":0.1264999955892563,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pallister-hall-syndrome","display_name":"Pallister-Hall syndrome","score":0.9760000109672546},{"id":"https://openalex.org/keywords/hypothalamic-hamartoma","display_name":"hypothalamic hamartoma","score":0.8899999856948853},{"id":"https://openalex.org/keywords/fetal-autopsy","display_name":"fetal autopsy","score":0.4830000102519989},{"id":"https://openalex.org/keywords/gelastic-seizures","display_name":"gelastic seizures","score":0.8050000071525574},{"id":"https://openalex.org/keywords/precocious-puberty","display_name":"precocious puberty","score":0.9959999918937683}],"concepts":[{"id":"https://openalex.org/C2908900992","wikidata":"https://www.wikidata.org/wiki/Q7850809","display_name":"Hypothalamic hamartoma","level":4,"score":0.9151095151901245},{"id":"https://openalex.org/C2775932916","wikidata":"https://www.wikidata.org/wiki/Q525075","display_name":"Hamartoma","level":2,"score":0.6318348050117493},{"id":"https://openalex.org/C2778367240","wikidata":"https://www.wikidata.org/wiki/Q224513","display_name":"Precocious puberty","level":3,"score":0.5397191643714905},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5219751596450806},{"id":"https://openalex.org/C2780130745","wikidata":"https://www.wikidata.org/wiki/Q1650750","display_name":"Neuropathology","level":3,"score":0.5073382258415222},{"id":"https://openalex.org/C2779504383","wikidata":"https://www.wikidata.org/wiki/Q41482","display_name":"Autopsy","level":2,"score":0.4952804148197174},{"id":"https://openalex.org/C2779449703","wikidata":"https://www.wikidata.org/wiki/Q5530367","display_name":"Gelastic seizure","level":5,"score":0.49386340379714966},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4538494348526001},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1886448860168457},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.17259523272514343},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000025","descriptor_name":"Abortion, Eugenic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001344","descriptor_name":"Autopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009626","descriptor_name":"Terminology as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054975","descriptor_name":"Pallister-Hall Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D054975","descriptor_name":"Pallister-Hall Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1177/1093526617701338","doi":"https://doi.org/10.1177/1093526617701338","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1093526617701338","pdf_url":null,"source":{"id":"https://openalex.org/S125957187","display_name":"Pediatric and Developmental Pathology","issn_l":"1093-5266","issn":["1093-5266","1615-5742"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and Developmental Pathology","raw_type":"journal-article"},{"id":"pmid:28429635","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28429635","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1534862743","https://openalex.org/W1957617858","https://openalex.org/W1965895014","https://openalex.org/W1972449734","https://openalex.org/W2000988068","https://openalex.org/W2005910968","https://openalex.org/W2005956338","https://openalex.org/W2025915218","https://openalex.org/W2025963445","https://openalex.org/W2029722850","https://openalex.org/W2030762707","https://openalex.org/W2057811345","https://openalex.org/W2063316723","https://openalex.org/W2065095803","https://openalex.org/W2085351543","https://openalex.org/W2086242387","https://openalex.org/W2088284676","https://openalex.org/W2092391957","https://openalex.org/W2093927437","https://openalex.org/W2095324704","https://openalex.org/W2098276051","https://openalex.org/W2100735790","https://openalex.org/W2127944840","https://openalex.org/W2144550602","https://openalex.org/W2158330823","https://openalex.org/W2169835307","https://openalex.org/W2222690725","https://openalex.org/W2307164172","https://openalex.org/W2423471756","https://openalex.org/W2489722909"],"related_works":["https://openalex.org/W2063316723","https://openalex.org/W2158330823","https://openalex.org/W4393278393","https://openalex.org/W1976346402","https://openalex.org/W4281960749","https://openalex.org/W2473173682","https://openalex.org/W4220871208","https://openalex.org/W3200834584","https://openalex.org/W2069373773","https://openalex.org/W2900656626"],"abstract_inverted_index":{"Pallister-Hall":[0],"syndrome":[1],"(PHS)":[2],"is":[3,9],"a":[4,31,60,88,125,147,160,173,185,197],"rare":[5],"malformative":[6,62],"disorder":[7],"that":[8],"due":[10],"to":[11,29,53,58,86,145],"truncating":[12],"functional":[13],"repressor":[14],"mutations":[15,154],"in":[16,22,97,115,124,159],"GLI3.":[17],"Since":[18],"the":[19,41,50,67,75,98,109,169,189,209],"seminal":[20],"publication":[21],"1980,":[23],"hypothalamic":[24,104,190],"tumors":[25],"have":[26,143,155],"been":[27,157],"recognized":[28,158],"be":[30,59,87],"cardinal":[32],"feature":[33],"of":[34,40,44,66,73,92,140,150,163,180,188,200,213],"PHS.":[35,181],"In":[36,69],"their":[37],"original":[38],"description":[39,187],"neuropathologic":[42],"features":[43,179],"PHS,":[45,74],"Clarren":[46],"et":[47],"al.":[48],"coined":[49],"term":[51,76],"\"hamartoblastoma\"":[52],"characterize":[54],"what":[55,84],"they":[56],"deemed":[57],"dual":[61],"and":[63,122,128,195],"neoplastic":[64],"mass":[65],"hypothalamus.":[68],"subsequent":[70],"published":[71],"cases/series":[72],"\"hamartoma\"":[77],"was":[78],"often":[79],"substituted":[80],"for":[81],"hamartoblastoma":[82],"given":[83],"appeared":[85],"benign":[89],"natural":[90],"history":[91],"this":[93,193],"lesion.":[94],"Additional":[95],"confusion":[96],"literature":[99],"has":[100],"ensued":[101],"since":[102],"most":[103],"hamartomas":[105],"(HH)":[106],"encountered":[107],"on":[108],"clinical":[110],"neuropathology":[111],"service":[112],"are":[113],"\"isolated\"":[114],"nature":[116],"(ie,":[117],"no":[118],"other":[119],"congenital":[120],"malformations)":[121],"present":[123],"very":[126],"different":[127],"stereotypical":[129],"fashion":[130],"with":[131,178],"gelastic":[132],"seizures":[133],"and/or":[134],"precocious":[135],"puberty.":[136],"While":[137],"genomic":[138],"investigations":[139],"isolated":[141,164,205],"HH":[142],"begun":[144],"uncover":[146],"mutational":[148],"profile":[149],"these":[151],"cases,":[152],"GLI3":[153],"only":[156],"small":[161],"subset":[162],"HH.":[165],"Herein,":[166],"we":[167,183],"describe":[168],"autopsy":[170],"findings":[171],"from":[172,204],"21-week":[174],"gestational":[175],"age":[176],"fetus":[177,194],"Moreover,":[182],"provide":[184],"detailed":[186],"tumor":[191],"affecting":[192],"propose":[196],"novel":[198],"subclassification":[199],"HH,":[201],"distinguishing":[202],"syndromic":[203],"forms":[206],"based":[207],"upon":[208],"presence":[210],"or":[211],"absence":[212],"neocortical-like":[214],"areas.":[215]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-01-05T00:00:00"}
