Down Sendromlu Çocuklarda Atlanto-Aksiyel Eklem İnstabilitesi ve Sendroma Özgü Diğer Klinik Bulgularla İlişkisi

Öğün N., Giray Bozkaya Ö., Bora E., Ülgenalp A., Erçal M. D.

TURKIYE KLINIKLERI PEDIATRI, vol.17, no.4, pp.250-256, 2008 (Peer-Reviewed Journal)

  • Publication Type: Article / Article
  • Volume: 17 Issue: 4
  • Publication Date: 2008
  • Journal Indexes: TR DİZİN (ULAKBİM)
  • Page Numbers: pp.250-256
  • Dokuz Eylül University Affiliated: Yes


Objective: Evaluation of atlanto-axial instability and investigation the association with other more frequent clinical features such as hypothyroidism ophthalmologic and cardiac abnormalities at down syndrome individuals based on intrinsic collagen hypothesis. Material and Methods: Study was designed retrospectivly in 50 patients choosed randomly from Down syndrome patients attending Dokuz Eylül University, Department of Pediatrics Clinical Genetics section. Patients' files were reviewed and demographic characteristics, physical examination and laboratory findings, reports of departments of ophthalmology and pediatric cardiology were recorded. Presence of atlanto-axial joint instability with cardiac defects, hypothyroidism and ophthalmologic abnormalities have been evaluated. Results: Fifty Down syndrome patients, ages ranged between 6 months and 10 years, had been included in the study. Most frequent physical examination finding in patients was craniofacial findings. Eye findings in 22% (n=11), cardiac defects in 44% (n=22), atlanto-axial instability in 8% (n=4) and hypothyriodism in 20% (n=10) of patients were determined. Only one of the four patients who had atlanto-axial instability, had hypothyroidism. While 75% of atlanto-axial instability patients had cardiac findings, ratio of patients with cardiac semptoms who had not atlanto-axial instability was 41%. While %75 of patients wtih atlanto-axial instability had eye findings, 17.4% of patients had eye semptoms but not had atlanto-axial instability. The difference between two state was statistically significant (p= 0.029). Conclusion: While association of atlanto-axial instability with ophthalmologic abnormalities were determined, there were no statisticly signifigant correlation of the presence of other parameters (hypothyroidism and cardiac defects) with atlanto-axial instability.