Pendred syndrome is an autosomal recessive disorder associated with congenital neurosensorial deafness and goitre The incidence of Pendred syndrome is estimated to be 7 5 10 100 000 and may be responsible for as much as 4 10 of hereditary deafness In this study a patient with Pendred s syndrome and multiple anomalies was reported to emphasize the importance of follow up in patients with congenital deafness and to call attention to this rare anomaly Key words: Congenital Deafness Pendred Syndrome Goitre
📌 3 Key Takeaways
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Objective & Hypothesis:Pendred syndrome is an autosomal recessive disorder associated with congenital neurosensorial deafness and goitre The incidence of Pendred syndrome is estimated to be 7 5 10 100 000 and may be responsible for as much as 4 10 of hereditary deafness In this study a patient with Pendred s syndrome and multiple anomalies was reported to emphasize the importance of follow up in patients with congenital deafness and to call attention to this rare anomaly Key words: Congenital Deafness Pendred Syndrome Goitre
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Key Findings & Data:Pendred syndrome is an autosomal recessive disorder associated with congenital neurosensorial deafness and goitre The incidence of Pendred syndrome is estimated to be 7 5 10 100 000 and may be responsible for as much as 4 10 of hereditary deafness In this study a patient with Pendred s syndrome and multiple anomalies was reported to emphasize the importance of follow up in patients with congenital deafness and to call attention to this rare anomaly Key words: Congenital Deafness Pendred Syndrome Goitre
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Conclusion & Impact:Pendred syndrome is an autosomal recessive disorder associated with congenital neurosensorial deafness and goitre The incidence of Pendred syndrome is estimated to be 7 5 10 100 000 and may be responsible for as much as 4 10 of hereditary deafness In this study a patient with Pendred s syndrome and multiple anomalies was reported to emphasize the importance of follow up in patients with congenital deafness and to call attention to this rare anomaly Key words: Congenital Deafness Pendred Syndrome Goitre
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Pendred syndrome is an autosomal recessive disorder associated with congenital neurosensorial deafness and goitre The incidence of Pendred syndrome is estimated to be 7 5 10 100 000 and may be responsible for as much as 4 10 of hereditary deafness In this study a patient with Pendred s syndrome and multiple anomalies was reported to emphasize the importance of follow up in patients with congenital deafness and to call attention to this rare anomaly Key words: Congenital Deafness Pendred Syndrome Goitre
Özet
Pendred sendromu konjenital nörosensoriyal sağırlık ve guatr ile karakterize otozomal resesif geçiş gösteren bir hastalıktır Konjenital sağırlık vakalarının 4 10 undan sorumlu olduğu ve insidansının 7 5 10 100 000 arasında değiştiği kaydedilmiştir Bu çalışmada Pendred sendromlu ek konjenital anomalileri bulunan bir vaka nadir görülen bu sendromu ve doğuştan işitme kaybı olan çocukların takibinin önemini vurgulamak üzere bildirilmek istendi Anahtar kelimeler: Konjenital Sağırlık Pendred Sendromu Guatr
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Cite This Article
KARADUMAN, D., SARIOĞLU, A., KILIÇ, İ., KURTOĞLU, S. (2000). A Case of Pendred Syndrome Associated with Multiple Congenital Anomalies. Türk Pediatri Arşivi, Cilt: 35 Sayı: 3, 1–1. https://ajindex.com/articles/1012206