PubMed:24123776 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/24123776","sourcedb":"PubMed","sourceid":"24123776","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/24123776","text":"Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.\nSensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport. We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome. Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS. Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome. Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis. Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome. We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype. Additional natural history data will improve genetic counseling and current guidelines.","tracks":[{"project":"Allie","denotations":[{"id":"SS1_24123776_5_0","span":{"begin":849,"end":895},"obj":"expanded"},{"id":"SS2_24123776_5_0","span":{"begin":897,"end":903},"obj":"abbr"}],"relations":[{"id":"AE1_24123776_5_0","pred":"abbreviatedTo","subj":"SS1_24123776_5_0","obj":"SS2_24123776_5_0"}],"attributes":[{"subj":"SS1_24123776_5_0","pred":"source","obj":"Allie"},{"subj":"SS2_24123776_5_0","pred":"source","obj":"Allie"}]},{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":305,"end":311},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1593,"end":1598},"obj":"http://purl.obolibrary.org/obo/UBERON_0000948"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":324,"end":329},"obj":"http://purl.obolibrary.org/obo/UBERON_0002107"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":294,"end":311},"obj":"http://purl.obolibrary.org/obo/UBERON_0002384"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":1204,"end":1208},"obj":"http://purl.obolibrary.org/obo/UBERON_0002101"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":982,"end":990},"obj":"http://purl.obolibrary.org/obo/UBERON_0008200"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":282,"end":292},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":1535,"end":1545},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T9","span":{"begin":972,"end":980},"obj":"http://purl.obolibrary.org/obo/UBERON_0004104"},{"id":"PD-UBERON-AE-B_T10","span":{"begin":1647,"end":1669},"obj":"http://purl.obolibrary.org/obo/UBERON_0002087"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T5","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T6","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T7","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T8","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T9","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T10","pred":"source","obj":"performance-test"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":324,"end":339},"obj":"HP_0001392"},{"id":"T2","span":{"begin":595,"end":624},"obj":"HP_0011324"},{"id":"T3","span":{"begin":608,"end":624},"obj":"HP_0001363"},{"id":"T4","span":{"begin":958,"end":980},"obj":"HP_0009890"},{"id":"T5","span":{"begin":1003,"end":1017},"obj":"HP_0000268"},{"id":"T6","span":{"begin":1034,"end":1059},"obj":"HP_0004442"},{"id":"T7","span":{"begin":1043,"end":1059},"obj":"HP_0001363"},{"id":"T8","span":{"begin":1153,"end":1174},"obj":"HP_0100255"},{"id":"T9","span":{"begin":1180,"end":1193},"obj":"HP_0000774"},{"id":"T10","span":{"begin":1204,"end":1218},"obj":"HP_0009826"},{"id":"T11","span":{"begin":1224,"end":1237},"obj":"HP_0009381"},{"id":"T12","span":{"begin":1224,"end":1237},"obj":"HP_0009803"},{"id":"T13","span":{"begin":1517,"end":1530},"obj":"HP_0001156"},{"id":"T14","span":{"begin":1561,"end":1586},"obj":"HP_0004442"},{"id":"T15","span":{"begin":1570,"end":1586},"obj":"HP_0001363"},{"id":"T16","span":{"begin":1593,"end":1606},"obj":"HP_0001627"},{"id":"T17","span":{"begin":1647,"end":1669},"obj":"HP_0001674"},{"id":"T18","span":{"begin":1647,"end":1691},"obj":"HP_0006695"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"},{"subj":"T6","pred":"source","obj":"PubmedHPO"},{"subj":"T7","pred":"source","obj":"PubmedHPO"},{"subj":"T8","pred":"source","obj":"PubmedHPO"},{"subj":"T9","pred":"source","obj":"PubmedHPO"},{"subj":"T10","pred":"source","obj":"PubmedHPO"},{"subj":"T11","pred":"source","obj":"PubmedHPO"},{"subj":"T12","pred":"source","obj":"PubmedHPO"},{"subj":"T13","pred":"source","obj":"PubmedHPO"},{"subj":"T14","pred":"source","obj":"PubmedHPO"},{"subj":"T15","pred":"source","obj":"PubmedHPO"},{"subj":"T16","pred":"source","obj":"PubmedHPO"},{"subj":"T17","pred":"source","obj":"PubmedHPO"},{"subj":"T18","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":561,"end":566},"obj":"gene:57539"},{"id":"T1","span":{"begin":647,"end":669},"obj":"disease:C0432235"},{"id":"T2","span":{"begin":561,"end":566},"obj":"gene:57539"},{"id":"T3","span":{"begin":608,"end":624},"obj":"disease:C0010278"},{"id":"T4","span":{"begin":897,"end":900},"obj":"gene:465"},{"id":"T5","span":{"begin":823,"end":845},"obj":"disease:C0432235"},{"id":"T6","span":{"begin":897,"end":900},"obj":"gene:472"},{"id":"T7","span":{"begin":823,"end":845},"obj":"disease:C0432235"},{"id":"T8","span":{"begin":897,"end":900},"obj":"gene:472"},{"id":"T9","span":{"begin":849,"end":880},"obj":"disease:C0265275"},{"id":"T10","span":{"begin":897,"end":900},"obj":"gene:465"},{"id":"T11","span":{"begin":849,"end":880},"obj":"disease:C0265275"},{"id":"T12","span":{"begin":1280,"end":1283},"obj":"gene:472"},{"id":"T13","span":{"begin":1253,"end":1275},"obj":"disease:C0432235"},{"id":"T14","span":{"begin":1280,"end":1283},"obj":"gene:465"},{"id":"T15","span":{"begin":1253,"end":1275},"obj":"disease:C0432235"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"},{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"},{"subj":"T10","pred":"source","obj":"DisGeNET"},{"subj":"T11","pred":"source","obj":"DisGeNET"},{"subj":"T12","pred":"source","obj":"DisGeNET"},{"subj":"T13","pred":"source","obj":"DisGeNET"},{"subj":"T14","pred":"source","obj":"DisGeNET"},{"subj":"T15","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":127},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":128,"end":340},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":341,"end":460},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":461,"end":670},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":671,"end":810},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":811,"end":928},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":929,"end":1152},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1153,"end":1287},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1288,"end":1400},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1401,"end":1587},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1588,"end":1738},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1739,"end":1864},"obj":"Sentence"},{"id":"TextSentencer_T13","span":{"begin":1865,"end":1952},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":127},"obj":"Sentence"},{"id":"T2","span":{"begin":128,"end":340},"obj":"Sentence"},{"id":"T3","span":{"begin":341,"end":460},"obj":"Sentence"},{"id":"T4","span":{"begin":461,"end":670},"obj":"Sentence"},{"id":"T5","span":{"begin":671,"end":810},"obj":"Sentence"},{"id":"T6","span":{"begin":811,"end":928},"obj":"Sentence"},{"id":"T7","span":{"begin":929,"end":1152},"obj":"Sentence"},{"id":"T8","span":{"begin":1153,"end":1287},"obj":"Sentence"},{"id":"T9","span":{"begin":1288,"end":1400},"obj":"Sentence"},{"id":"T10","span":{"begin":1401,"end":1587},"obj":"Sentence"},{"id":"T11","span":{"begin":1588,"end":1738},"obj":"Sentence"},{"id":"T12","span":{"begin":1739,"end":1864},"obj":"Sentence"},{"id":"T13","span":{"begin":1865,"end":1952},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T11","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T12","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T13","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"},{"subj":"T11","pred":"source","obj":"sentences"},{"subj":"T12","pred":"source","obj":"sentences"},{"subj":"T13","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":282,"end":292},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1535,"end":1545},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":294,"end":311},"obj":"http://purl.obolibrary.org/obo/UBERON_0002384"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":305,"end":311},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":324,"end":329},"obj":"http://purl.obolibrary.org/obo/UBERON_0002107"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":972,"end":980},"obj":"http://purl.obolibrary.org/obo/UBERON_0004104"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":982,"end":990},"obj":"http://purl.obolibrary.org/obo/UBERON_0008200"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":1204,"end":1208},"obj":"http://purl.obolibrary.org/obo/UBERON_0002101"},{"id":"PD-UBERON-AE-B_T9","span":{"begin":1593,"end":1598},"obj":"http://purl.obolibrary.org/obo/UBERON_0000948"},{"id":"PD-UBERON-AE-B_T10","span":{"begin":1647,"end":1669},"obj":"http://purl.obolibrary.org/obo/UBERON_0002087"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T5","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T6","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T7","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T8","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T9","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T10","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":608,"end":624},"obj":"HP:0001363"},{"id":"AB2","span":{"begin":958,"end":980},"obj":"HP:0009890"},{"id":"AB3","span":{"begin":1003,"end":1017},"obj":"HP:0000268"},{"id":"AB4","span":{"begin":1034,"end":1059},"obj":"HP:0004442"},{"id":"AB5","span":{"begin":1153,"end":1174},"obj":"HP:0100255"},{"id":"AB6","span":{"begin":1224,"end":1237},"obj":"HP:0009381"},{"id":"AB7","span":{"begin":1517,"end":1530},"obj":"HP:0001156"},{"id":"AB8","span":{"begin":1561,"end":1586},"obj":"HP:0004442"},{"id":"AB9","span":{"begin":1673,"end":1683},"obj":"HP:0030853"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"},{"subj":"AB3","pred":"source","obj":"PubCasesHPO"},{"subj":"AB4","pred":"source","obj":"PubCasesHPO"},{"subj":"AB5","pred":"source","obj":"PubCasesHPO"},{"subj":"AB6","pred":"source","obj":"PubCasesHPO"},{"subj":"AB7","pred":"source","obj":"PubCasesHPO"},{"subj":"AB8","pred":"source","obj":"PubCasesHPO"},{"subj":"AB9","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":128,"end":150},"obj":"ORDO:1515"},{"id":"TI1","span":{"begin":24,"end":50},"obj":"ORDO:1515"},{"id":"AB2","span":{"begin":166,"end":192},"obj":"ORDO:1515"},{"id":"AB3","span":{"begin":647,"end":669},"obj":"ORDO:1515"},{"id":"AB4","span":{"begin":823,"end":845},"obj":"ORDO:1515"},{"id":"AB5","span":{"begin":881,"end":895},"obj":"ORDO:474"},{"id":"AB6","span":{"begin":1129,"end":1151},"obj":"ORDO:1515"},{"id":"AB7","span":{"begin":1224,"end":1237},"obj":"ORDO:294996"},{"id":"AB8","span":{"begin":1253,"end":1275},"obj":"ORDO:1515"},{"id":"AB9","span":{"begin":1377,"end":1399},"obj":"ORDO:1515"},{"id":"AB10","span":{"begin":1434,"end":1456},"obj":"ORDO:1515"},{"id":"AB11","span":{"begin":1711,"end":1737},"obj":"ORDO:289"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"},{"subj":"AB3","pred":"source","obj":"PubCasesORDO"},{"subj":"AB4","pred":"source","obj":"PubCasesORDO"},{"subj":"AB5","pred":"source","obj":"PubCasesORDO"},{"subj":"AB6","pred":"source","obj":"PubCasesORDO"},{"subj":"AB7","pred":"source","obj":"PubCasesORDO"},{"subj":"AB8","pred":"source","obj":"PubCasesORDO"},{"subj":"AB9","pred":"source","obj":"PubCasesORDO"},{"subj":"AB10","pred":"source","obj":"PubCasesORDO"},{"subj":"AB11","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"24123776-3#100#105#gene57539","span":{"begin":561,"end":566},"obj":"gene57539"},{"id":"24123776-3#147#163#diseaseC0010278","span":{"begin":608,"end":624},"obj":"diseaseC0010278"},{"id":"24123776-3#186#208#diseaseC0432235","span":{"begin":647,"end":669},"obj":"diseaseC0432235"},{"id":"24123776-5#86#89#gene465","span":{"begin":897,"end":900},"obj":"gene465"},{"id":"24123776-5#38#69#diseaseC0265275","span":{"begin":849,"end":880},"obj":"diseaseC0265275"}],"relations":[{"id":"100#105#gene57539147#163#diseaseC0010278","pred":"associated_with","subj":"24123776-3#100#105#gene57539","obj":"24123776-3#147#163#diseaseC0010278"},{"id":"100#105#gene57539186#208#diseaseC0432235","pred":"associated_with","subj":"24123776-3#100#105#gene57539","obj":"24123776-3#186#208#diseaseC0432235"},{"id":"86#89#gene46538#69#diseaseC0265275","pred":"associated_with","subj":"24123776-5#86#89#gene465","obj":"24123776-5#38#69#diseaseC0265275"}],"attributes":[{"subj":"24123776-3#100#105#gene57539","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24123776-3#147#163#diseaseC0010278","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24123776-3#186#208#diseaseC0432235","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24123776-5#86#89#gene465","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24123776-5#38#69#diseaseC0265275","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"Allie","color":"#93bfec","default":true},{"id":"performance-test","color":"#d9ec93"},{"id":"PubmedHPO","color":"#e593ec"},{"id":"DisGeNET","color":"#93eccb"},{"id":"sentences","color":"#ecb193"},{"id":"UBERON-AE","color":"#9793ec"},{"id":"PubCasesHPO","color":"#a9ec93"},{"id":"PubCasesORDO","color":"#ec93c3"},{"id":"DisGeNET5_gene_disease","color":"#93ddec"}]}]}}