The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
📌 3 Key Takeaways
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Objective & Hypothesis:Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies.
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Key Findings & Data:In this report two cases who had his-tory of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented.
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Conclusion & Impact:The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies. In this report two cases who had his-tory of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented. The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheri-tance of WWS.
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Cite This Article
AKTAŞ, S., KARAKURT, T. L., AYDIN, K., ÖNAL, Z. E. (2018). Two newborn case reports diagnosed as Walker Warburg syndrome. Medeniyet Medical Journal, Cilt: 33 - Sayı: 4, 346–351. https://ajindex.com/articles/283290
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