Case 1: A small girl with a bird-like face
dc.contributor.buuauthor | Kılıç, Sara Şebnem | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-8571-2581 | tr_TR |
dc.contributor.researcherid | AAH-1658-2021 | tr_TR |
dc.contributor.scopusid | 34975059200 | tr_TR |
dc.date.accessioned | 2021-08-23T11:33:34Z | |
dc.date.available | 2021-08-23T11:33:34Z | |
dc.date.issued | 2006 | |
dc.description.abstract | An 8-y-old girl was admitted to the Department ofPaediatric Immunology of our hospital because ofrecurrent respiratory infections and microcephaly.She was the third child of a consanguineousmarriage, and there was no family history of anyhereditary disorders. She experienced repeated skininfections and suffered from recurrent respiratorytract infections. One week before hospital admission,the patient described fever, generalized fatigueand cough. However, sputum production did notdevelop.On physical examination, her height was 107 cm(less than the third percentile), her weight was 15.6kg (less than the third percentile) and head circum-ference was 45 cm (less than the third percentile).She was fully cooperative and communicated appro-priately during examination despite striking retarda-tion of physical growth and severe microcephaly.Her hair was sparse and low pigmented. She had a‘‘bird-like’’ facies characterized by a prominent andlong nose, with a receding forehead and mandible,long philtrum, large and prominent ears, a widemouth with a thin upper lip, and micrognathia(Figure 1). At initial presentation, the patient wasfebrile (388C). Blood pressure was 110/75 mmHg.Her oral cavitary examination revealed oral monilia-sis. Chest examination revealed poor expansion anddiffuse bilateral widespread crackles. Mild psycho-motor retardation (developmental coefficient of80%) was diagnosed | en_US |
dc.identifier.citation | Kılıç, S. Ş. (2006). ''Case 1: A small girl with a bird-like face''. Acta Paediatrica, International Journal of Paediatrics, 95(11), 1505-1507. | tr_TR |
dc.identifier.endpage | 1507 | tr_TR |
dc.identifier.issn | 0803-5253 | |
dc.identifier.issn | 1651-2227 | |
dc.identifier.issue | 11 | tr_TR |
dc.identifier.pubmed | 17062486 | tr_TR |
dc.identifier.scopus | 2-s2.0-33750417061 | tr_TR |
dc.identifier.startpage | 1505 | tr_TR |
dc.identifier.uri | https://doi.org/10.1080/08035250600731981 | |
dc.identifier.uri | https://onlinelibrary.wiley.com/doi/full/10.1080/08035250600731981 | |
dc.identifier.uri | http://hdl.handle.net/11452/21529 | |
dc.identifier.volume | 95 | tr_TR |
dc.identifier.wos | 000241520400032 | tr_TR |
dc.indexed.pubmed | Pubmed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Wiley | en_US |
dc.relation.journal | Acta Paediatrica, International Journal of Paediatrics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Pediatrics | en_US |
dc.subject | Repair | en_US |
dc.subject | Disease | en_US |
dc.subject | Septic pulmonary-embolism | en_US |
dc.subject | Nijmegen breakage syndrome | en_US |
dc.subject.emtree | Vancomycin | en_US |
dc.subject.emtree | Meropenem | en_US |
dc.subject.emtree | Immunoglobulin | en_US |
dc.subject.emtree | Fluconazole | en_US |
dc.subject.emtree | Thorax radiography | en_US |
dc.subject.emtree | Staphylococcus infection | en_US |
dc.subject.emtree | Staphylococcus aureus | en_US |
dc.subject.emtree | School child | en_US |
dc.subject.emtree | Priority journal | en_US |
dc.subject.emtree | Physical examination | en_US |
dc.subject.emtree | Nijmegen breakage syndrome | en_US |
dc.subject.emtree | Laboratory test | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Computer assisted tomography | en_US |
dc.subject.emtree | Clinical feature | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Blood culture | en_US |
dc.subject.emtree | Anamnesis | en_US |
dc.subject.mesh | Psychomotor disorders | en_US |
dc.subject.mesh | Nuclear proteins | en_US |
dc.subject.mesh | Nijmegen breakage syndrome | en_US |
dc.subject.mesh | Microcephaly | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Failure to thrive | en_US |
dc.subject.mesh | Facies | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Cell cycle proteins | en_US |
dc.subject.mesh | Abnormalities, multiple | en_US |
dc.subject.scopus | Nijmegen Breakage Syndrome; Double Stranded DNA Break; Replication Factor A | en_US |
dc.subject.wos | Pediatrics | en_US |
dc.title | Case 1: A small girl with a bird-like face | en_US |
dc.type | Editorial Material | |
dc.wos.quartile | Q2 | en_US |
Files
License bundle
1 - 1 of 1
No Thumbnail Available
- Name:
- license.txt
- Size:
- 1.71 KB
- Format:
- Item-specific license agreed upon to submission
- Description: