Abstract
CHARGE sendromu 1/10.000-15.000 oranında görülen ve çok sayıda doğumsal anomalinin eşlik ettiği bir sendromdur. Yenidoğan yoğun bakım servisimize solunum sıkıntısı nedeni ile kabul edilen olguya, bilateral koanal stenoz, koroid kolobomu, kulak anomalisi, işitme kaybı, kalp ve böbrek anomalisi saptanması üzerine CHARGE sendromu tanısı konuldu. Olgu koanal atrezi saptanan yenidoğanlarda CHARGE sendromunun akla getirilmesi ve diğer organlara ait patolojilerin araştırılması gerektiği, erken tanı ve tedavi ile multidisipliner yaklaşımın öneminin vurgulanması amacıyla sunuldu.
Keywords
References
- Julie K, Louanne H. Neonatal presentations of Charge Syndrome and Vater/Vacterl association. Neoreviews 2008;9:299-304.
- Klingenberg C, Andersen WH. The Charge syndrome. Tidsskr Nor Laegeforen 2008;128:1401-5.
- Blake KD, Prasad C. Charge syndrome. Orphanet J Rare Dis 2006;1:34.
- Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kaariainen HA. A familial Charge syndrome with a CHD7 nonsense mutation and new clinical features. Clin Dysmorphol 2008;17:249- 53.
- Lee KD, Okazaki T, Kato Y, Lane GJ, Yamataka A. Esophageal atresia and tracheo-esophageal fi stula associated with coarctation of the aorta, Charge association and DiGeorge syndrome: A case report and literature review. Pediatr Surg Int 2008;24:1153-6.
- Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986;29:298-310.
- Dobbelsteyn C, Peacocke SD, Blake K, Crist W, Rashid M. Feeding diffi culties in children with Charge syndrome: Prevalence, risk factors, and prognosis. Dysphagia 2008;23:127-35.
- Santoro L, Ficcadenti A, Zallocco F, Gesuita R, Ceccarani P, Gabrielli O. Cognitive-motor profi le, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience. Am J Med Genet 2014;24:1-10.
- Anderzén-Carlsson A. CHARGE syndrome-A fi ve case study of the syndrome characteristics and health care consumption during the fi rst year in life. J Pediatr Nurs 2014;14:5963.
Abstract
The CHARGE syndrome, which has an incidence of 1/10.000-15.000, involves multiple congenital anomalies. A newborn infant admitted to our neonatal intensive care unit with respiratory distress was diagnosed with CHARGE syndrome due to the presence of multiple anomalies including bilateral choanal stenosis, choroidal coloboma, ear anomalies, hearing loss, heart and renal anomalies. The reason we report this patient is two-fold: fi rst to remind that CHARGE syndrome should be considered in infants with choanal atresia and other anomalies, and second to emphasize the importance of early diagnosis and a multidisciplinary approach in the treatment of patients with CHARGE syndrome
Keywords
References
- Julie K, Louanne H. Neonatal presentations of Charge Syndrome and Vater/Vacterl association. Neoreviews 2008;9:299-304.
- Klingenberg C, Andersen WH. The Charge syndrome. Tidsskr Nor Laegeforen 2008;128:1401-5.
- Blake KD, Prasad C. Charge syndrome. Orphanet J Rare Dis 2006;1:34.
- Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kaariainen HA. A familial Charge syndrome with a CHD7 nonsense mutation and new clinical features. Clin Dysmorphol 2008;17:249- 53.
- Lee KD, Okazaki T, Kato Y, Lane GJ, Yamataka A. Esophageal atresia and tracheo-esophageal fi stula associated with coarctation of the aorta, Charge association and DiGeorge syndrome: A case report and literature review. Pediatr Surg Int 2008;24:1153-6.
- Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986;29:298-310.
- Dobbelsteyn C, Peacocke SD, Blake K, Crist W, Rashid M. Feeding diffi culties in children with Charge syndrome: Prevalence, risk factors, and prognosis. Dysphagia 2008;23:127-35.
- Santoro L, Ficcadenti A, Zallocco F, Gesuita R, Ceccarani P, Gabrielli O. Cognitive-motor profi le, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience. Am J Med Genet 2014;24:1-10.
- Anderzén-Carlsson A. CHARGE syndrome-A fi ve case study of the syndrome characteristics and health care consumption during the fi rst year in life. J Pediatr Nurs 2014;14:5963.
Details
| Other ID | JA83VN73YR |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2016 |
| Submission Date | April 1, 2016 |
| Published in Issue | Year 2016 Volume: 10 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.