2021-08-232021-08-232006Kılıç, S. Ş. (2006). ''Case 1: A small girl with a bird-like face''. Acta Paediatrica, International Journal of Paediatrics, 95(11), 1505-1507.0803-52531651-2227https://doi.org/10.1080/08035250600731981https://onlinelibrary.wiley.com/doi/full/10.1080/08035250600731981http://hdl.handle.net/11452/21529An 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 diagnosedeninfo:eu-repo/semantics/closedAccessPediatricsRepairDiseaseSeptic pulmonary-embolismNijmegen breakage syndromePsychomotor disordersNuclear proteinsNijmegen breakage syndromeMicrocephalyHumansFemaleFailure to thriveFaciesChildCell cycle proteinsAbnormalities, multipleEditorial Material0002415204000322-s2.0-3375041706115051507951117062486PediatricsNijmegen Breakage Syndrome; Double Stranded DNA Break; Replication Factor AVancomycinMeropenemImmunoglobulinFluconazoleThorax radiographyStaphylococcus infectionStaphylococcus aureusSchool childPriority journalPhysical examinationNijmegen breakage syndromeLaboratory testHumanFemaleComputer assisted tomographyClinical featureCase reportBlood cultureAnamnesis