FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2030275062> ?p ?o ?g. }

• W2030275062 endingPage "35" @default.
• W2030275062 startingPage "22" @default.
• W2030275062 abstract "Primary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is exclusively described in sporadic cases and no hereditary component has yet been reported. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Here, we report two consanguineous families containing a total of four affected patients manifesting primary intraosseous vascular malformation (VMOS (vascular malformation osseous)) of the craniofacial region. The phenotypic expression is remarkably similar in both families. The characteristic findings include severe blood vessel expansions within the craniofacial bones and midline abnormalities such as diastasis recti, supraumbilical raphe, and hiatus hernia. Malformation is restricted to the mandibular and maxillary area in the prepubertal age, and rapid expansion starts after age 12 or 13. A 15-year follow-up of one of the patients demonstrated that the vascular malformation did not extend beyond the craniofacial region despite severe involvement of almost all bones in the skull. Detailed clinical and radiological evaluation provided neither evidence of soft-tissue involvement nor any sign of gross arterial, venous, or combined malformations, indicating that bone changes are a primary rather than a secondary effect due to any other vascular anomaly in the craniofacial region. An antibody against a universal proliferation marker, Ki-67, detected nonproliferative, single-layered endothelial cells, suggesting that this abnormality is a vascular malformation rather than a hemangioma. alpha-actin staining (antibody against perivascular tissue such as smooth muscle cells (SMCs) and/or pericytes) demonstrated that pathologic vessels lost their surrounding supportive tissues, as was previously seen in other types of vascular anomaly. Homozygosity mapping excluded the following loci and/or genes: multiple cutaneous venous malformation (VMCM1; gene, TIE2) on chromosome 9p21; venous malformation with glomus cells (VMGLOM) on chromosome 1p22-p21; hereditary hemorrhagic telangiectasia type 1 (HHT1; gene, endoglin) and type 2 (HHT2; gene, activin) on chromosomes 9q34.1 and 12q11-q14, respectively; and cerebral cavernous malformation type 1 (CCM1; gene, KRIT1), type 2 (CCM2), and type 3 (CCM3) on chromosomes 7q11.2-q21, 7p15-p13, and 3q35.2-q27, respectively. To the best of our knowledge, this is a new disorder, which we call hereditary intraosseous vascular malformation of the craniofacial region." @default.
• W2030275062 created "2016-06-24" @default.
• W2030275062 creator A5017608689 @default.
• W2030275062 creator A5017723996 @default.
• W2030275062 creator A5034963626 @default.
• W2030275062 creator A5051693993 @default.
• W2030275062 creator A5063420423 @default.
• W2030275062 creator A5063655594 @default.
• W2030275062 date "2002-03-22" @default.
• W2030275062 modified "2023-10-17" @default.
• W2030275062 title "Hereditary intraosseous vascular malformation of the craniofacial region: An apparently novel disorder" @default.
• W2030275062 cites W1977557121 @default.
• W2030275062 cites W1984098940 @default.
• W2030275062 cites W1986433007 @default.
• W2030275062 cites W1988276998 @default.
• W2030275062 cites W1995232821 @default.
• W2030275062 cites W2004085147 @default.
• W2030275062 cites W2048607564 @default.
• W2030275062 cites W2058735256 @default.
• W2030275062 cites W2060372234 @default.
• W2030275062 cites W2066195540 @default.
• W2030275062 cites W2075998623 @default.
• W2030275062 cites W2089266691 @default.
• W2030275062 cites W2095011953 @default.
• W2030275062 cites W2112958616 @default.
• W2030275062 cites W2127959493 @default.
• W2030275062 cites W2132366506 @default.
• W2030275062 cites W2141501684 @default.
• W2030275062 cites W2146209711 @default.
• W2030275062 cites W2157365129 @default.
• W2030275062 cites W2158678771 @default.
• W2030275062 cites W2163546778 @default.
• W2030275062 doi "https://doi.org/10.1002/ajmg.10282" @default.
• W2030275062 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11932989" @default.
• W2030275062 hasPublicationYear "2002" @default.
• W2030275062 type Work @default.
• W2030275062 sameAs 2030275062 @default.
• W2030275062 citedByCount "24" @default.
• W2030275062 countsByYear W20302750622014 @default.
• W2030275062 countsByYear W20302750622015 @default.
• W2030275062 countsByYear W20302750622016 @default.
• W2030275062 countsByYear W20302750622018 @default.
• W2030275062 countsByYear W20302750622019 @default.
• W2030275062 countsByYear W20302750622020 @default.
• W2030275062 countsByYear W20302750622021 @default.
• W2030275062 countsByYear W20302750622023 @default.
• W2030275062 crossrefType "journal-article" @default.
• W2030275062 hasAuthorship W2030275062A5017608689 @default.
• W2030275062 hasAuthorship W2030275062A5017723996 @default.
• W2030275062 hasAuthorship W2030275062A5034963626 @default.
• W2030275062 hasAuthorship W2030275062A5051693993 @default.
• W2030275062 hasAuthorship W2030275062A5063420423 @default.
• W2030275062 hasAuthorship W2030275062A5063655594 @default.
• W2030275062 hasConcept C105702510 @default.
• W2030275062 hasConcept C118552586 @default.
• W2030275062 hasConcept C122246415 @default.
• W2030275062 hasConcept C141071460 @default.
• W2030275062 hasConcept C142724271 @default.
• W2030275062 hasConcept C2775958455 @default.
• W2030275062 hasConcept C2776321279 @default.
• W2030275062 hasConcept C2777507709 @default.
• W2030275062 hasConcept C2778951934 @default.
• W2030275062 hasConcept C2779300802 @default.
• W2030275062 hasConcept C2780191036 @default.
• W2030275062 hasConcept C2781245598 @default.
• W2030275062 hasConcept C71924100 @default.
• W2030275062 hasConceptScore W2030275062C105702510 @default.
• W2030275062 hasConceptScore W2030275062C118552586 @default.
• W2030275062 hasConceptScore W2030275062C122246415 @default.
• W2030275062 hasConceptScore W2030275062C141071460 @default.
• W2030275062 hasConceptScore W2030275062C142724271 @default.
• W2030275062 hasConceptScore W2030275062C2775958455 @default.
• W2030275062 hasConceptScore W2030275062C2776321279 @default.
• W2030275062 hasConceptScore W2030275062C2777507709 @default.
• W2030275062 hasConceptScore W2030275062C2778951934 @default.
• W2030275062 hasConceptScore W2030275062C2779300802 @default.
• W2030275062 hasConceptScore W2030275062C2780191036 @default.
• W2030275062 hasConceptScore W2030275062C2781245598 @default.
• W2030275062 hasConceptScore W2030275062C71924100 @default.
• W2030275062 hasIssue "1" @default.
• W2030275062 hasLocation W20302750621 @default.
• W2030275062 hasLocation W20302750622 @default.
• W2030275062 hasOpenAccess W2030275062 @default.
• W2030275062 hasPrimaryLocation W20302750621 @default.
• W2030275062 hasRelatedWork W2012151464 @default.
• W2030275062 hasRelatedWork W2381974330 @default.
• W2030275062 hasRelatedWork W2415485894 @default.
• W2030275062 hasRelatedWork W2890640858 @default.
• W2030275062 hasRelatedWork W2963681749 @default.
• W2030275062 hasRelatedWork W3004433832 @default.
• W2030275062 hasRelatedWork W3127395197 @default.
• W2030275062 hasRelatedWork W3202550938 @default.
• W2030275062 hasRelatedWork W4220777105 @default.
• W2030275062 hasRelatedWork W4387015480 @default.
• W2030275062 hasVolume "109" @default.
• W2030275062 isParatext "false" @default.
• W2030275062 isRetracted "false" @default.
• W2030275062 magId "2030275062" @default.

• next