An early breathing disorder in a newborn: Jeune syndrome
Journal Title: Medical Science and Discovery - Year 2016, Vol 3, Issue 2
Abstract
Introduction: Jeune syndrome affects an estimated 1 in 100.000 to 130.000 people. The syndrome causes breathing disorders and upper or lower respiratory tract infections because of thoracic cage which is smaller and narrower than usual.Case: Here we report a male newborn presented with narrow thoracic cage and short limbs. Radiological evaluation with PA chest graphy showed abnormal short ribs. 3D CT showed decreased antero-posterior diameter of chest cavity, horizontally located round ended ribs, and shallow acetabular cavity. Abdomen ultrasonography detected bilateral small kidneys accompanied by left pelvi-caliectasis and milimetric intraparanchimal liver calcification. Following recurrent lower respiratory tract infections, the baby expired within fourth month. The final diagnosis was Jeune syndrome.Conclusion: Jeune syndrome is a rare seen congenital anomaly. Radiological evaluation is essential for the diagnosis. Characteristic findings include many skeletal abnormalities on costochondral junctions, clavicles, iliac bones, long bones of the extremities, and phalanges of both hands and feet. About 60% to 70% of children with this condition die from respiratory failure as babies or young children which are the problem. Early diagnosis to decrease mortality is highly dependent on the early diagnosis of this syndrome.
Authors and Affiliations
Fatma Narter, Ozlem Turkoglu, Hakan Sarbay, Muferret Erguven
Keywords
Related Articles
- EP ID EP520484
- DOI -
- Views 33
- Downloads 0
Acute myeloid leukemia under lenalidomide therapy in a patient with multiple myeloma
A 53-year-old patient who had a 7 year history of multiple myeloma was diagnosed with high risk myelodysplastic syndrome while on lenalidomide treatment. Progression to acute myeloid leukemia has occurred during the foll...
A possible alternate pathway for intravascular thrombosis - Investigation of the circumstantial evidence by microfluidics
In light of the literature, in this hypothesis, we aimed to settle up an experimental procedure and possible mechanism for bacteremia induced disseminated intravascular coagulation via QA. Bacteremia resulting in sepsis...
Retrospective analysis of deep sedation in pediatric population for endoscopic procedures: adverse events and outcomes
Background: Upper gastrointestinal endoscopy (E) and colonoscopy (C) procedures are not well tolerated in pediatric population. General anesthesia or sedation applied during gastroendoscopic procedures. This study is don...
Radiofrequency Ablation Treatment in Small Renal Masses
In the recent years, diagnosis of small renal tumors has increased as a result of the development of technology and imaging technique. Number of patients with renal cell carcinoma has been increasing by 2-3% every year [...
Pancreaticoduodenal artery aneurysm: Treatment outcomes of a rare disorder
Objective: Pancreaticoduodenal artery aneurysm is a rare vascular disorder that manifests with a clinical presentation ranging from asymptomatic cases to hemorrhagic shock due to aneurysm rupture. In this st...