{"id":"https://openalex.org/W72139204","doi":null,"title":"Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.","display_name":"Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.","publication_year":2010,"publication_date":"2010-08-01","ids":{"openalex":"https://openalex.org/W72139204","mag":"72139204","pmid":"https://pubmed.ncbi.nlm.nih.gov/20711972"},"language":"en","primary_location":{"id":"pmid:20711972","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20711972","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":"La Tunisie medicale","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5113454302","display_name":"Sihem Chaouachi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118449","display_name":"H\u00f4pital Charles-Nicolle","ror":"https://ror.org/02f6ghw27","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210118449"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sihem Chaouachi","raw_affiliation_strings":["Service de N\u00e9onatologie--H\u00f4pital Charles Nicolle, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de N\u00e9onatologie--H\u00f4pital Charles Nicolle, Tunisia","institution_ids":["https://openalex.org/I4210118449"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109458854","display_name":"Emira Ben Hamida","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emira Ben Hamida","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023816534","display_name":"Ines Ennine","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ines Ennine","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020199488","display_name":"Meriem Chaabouni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Meriem Chaabouni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078451616","display_name":"Rachida Sfar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rachida Sfar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086090545","display_name":"Habiba Cha\u00e2bouni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Habiba Chaabouni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5013313051","display_name":"Zahra Marrakchi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zahra Marrakchi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4169,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.59672585,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"88","issue":"8","first_page":"614","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.6215999722480774,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.6215999722480774,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.14890000224113464,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.03550000116229057,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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-killian-syndrome","display_name":"Pallister-Killian syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cleft-palate","display_name":"cleft palate","score":0.9539999961853027},{"id":"https://openalex.org/keywords/diaphragmatic-hernia","display_name":"diaphragmatic hernia","score":0.9779999852180481},{"id":"https://openalex.org/keywords/chromosomal-mosaicism","display_name":"chromosomal mosaicism","score":0.8930000066757202},{"id":"https://openalex.org/keywords/fryns-syndrome","display_name":"Fryns syndrome","score":0.800000011920929},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9240000247955322},{"id":"https://openalex.org/keywords/cytogenetic-diagnosis","display_name":"cytogenetic diagnosis","score":0.6990000009536743},{"id":"https://openalex.org/keywords/skin-biopsy","display_name":"skin biopsy","score":0.4699999988079071},{"id":"https://openalex.org/keywords/prenatal-lethality","display_name":"prenatal lethality","score":0.6549999713897705}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8518713712692261},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.7645382881164551},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.4620698094367981},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.29777398705482483}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001034","descriptor_name":"Apgar Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002972","descriptor_name":"Cleft Palate","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007234","descriptor_name":"Infant, Premature","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007235","descriptor_name":"Infant, Premature, Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012447","descriptor_name":"Sacrum","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065630","descriptor_name":"Hernias, Diaphragmatic, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:20711972","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20711972","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":"La Tunisie medicale","raw_type":"Case Reports"},{"id":"mag:72139204","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20711972","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2025551978","https://openalex.org/W2017579304","https://openalex.org/W2119505683","https://openalex.org/W2191143004","https://openalex.org/W2010379807","https://openalex.org/W2318428619","https://openalex.org/W2135211405","https://openalex.org/W2051225772","https://openalex.org/W2056240421","https://openalex.org/W118388721"],"abstract_inverted_index":{"AIM:":[0],"Reppor":[1],"of":[2,13,66],"a":[3,10,17,31],"rare":[4,11],"congenital":[5],"abnormalities.":[6],"OBSERVATION:":[7],"We":[8],"report":[9],"case":[12],"Pallister-Killian":[14,46],"syndrome":[15,78],"in":[16,53],"33":[18],"weeks":[19],"gestation":[20],"infant.":[21],"In":[22],"addition":[23],"to":[24,75],"the":[25,45,76],"characteristic":[26],"phenotype,":[27],"this":[28,70],"patient":[29],"had":[30],"cleft":[32],"palate,":[33],"diaphragmatic":[34,67],"hernia":[35,68],"and":[36,59,79,84],"sacral":[37],"appendage.":[38],"These":[39],"additional":[40],"manifestations":[41],"are":[42],"not":[43],"among":[44],"syndrome's":[47],"features.":[48],"The":[49],"diagnosis":[50],"was":[51],"made":[52],"antenatal":[54],"period":[55],"by":[56],"cytogenetic":[57,89],"studies":[58],"showed":[60],"mosaic":[61],"47,":[62],"XY+i":[63],"(12p).":[64],"Presence":[65],"makes":[69],"syndrome,":[71],"prenatally":[72],"letal,":[73],"similar":[74],"Fryns":[77],"then":[80],"requires":[81],"skin":[82],"biopsy":[83],"fibroblast":[85],"chromosome":[86],"examination":[87],"for":[88],"diagnosis.":[90]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}