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Journals / TSK Koruyucu Hekimlik Bülteni / 2013 / Cilt: 12 - Sayı: 2

Bird-Headed Dwarfism (Seckel Syndrome) – A rare case report

Kuş Kafalı Cücelik (Seckel Sendromu) – nadir bir olgunun sunumu

Ramachandran SUDARSHAN
Rajeshwari G. ANNIGERI
G. Sree VIJAYABALA
Pages
209–212
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We report a case of 16 years old girl with clinical features resembling seckel syndrome along with anaemia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Seckel syndrome is a rare autosomal recessive disorder with a typical bird face appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders.
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Key Findings & Data:Seckel syndrome is a rare autosomal recessive disorder with a typical bird face appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders.
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Conclusion & Impact:We report a case of 16 years old girl with clinical features resembling seckel syndrome along with anaemia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Seckel syndrome is a rare autosomal recessive disorder with a typical bird face appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders. We report a case of 16 years old girl with clinical features resembling seckel syndrome along with anaemia.

Özet

Seckel Sendromu, tipik kuş yüzü görünümü, büyüme geriliği, mikrosefali, zekâ geriliği, değişken kromozom instabilitesi ve hematolojik problemler görülen nadir otozomal resesif bir bozukluktur. Biz anemi ile beraber seyreden Seckel Sendromuna benzer klinik bulguları olan 16 yaşında bir kız hastayı rapor ettik.

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Cite This Article

SUDARSHAN, R., ANNIGERI, R. G., VIJAYABALA, G. S. (2013). Bird-Headed Dwarfism (Seckel Syndrome) – A rare case report. TSK Koruyucu Hekimlik Bülteni, Cilt: 12 - Sayı: 2, 209–212. https://ajindex.com/articles/132732

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References (7)

  1. Cherian MP. Seckel-like syndrome or Seckel variants? Ann Saudi Med 2004;24(6):469-472
  2. John J. Sauk, Richard Litt, Ceres E. Espiritu, James R. Delaney. Familial Bird-headed Dwarfism (Seckel's Syndrome). J Med Genet. 1973; 10(2):196–198
  3. Garg R, Uppal S, Mittal R, Grewal A, Sood D, Shah S. Palatoplasty in a patient with Seckel syndrome. Ann Maxillofac Surg 2012;2:63-5
  4. Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel Syndrome with Polyarteritis Nodosa. Indian Pediatrics 2004;41:1158-61
  5. Wikipedia. Seckel syndrome (Accessed on 15 Sep, 2012).
  6. Gorlin RJ, Cohen MM, Hennekam. Syndromes of Head and Neck. Oxford University Press, Inc: New York; 4th ed
  7. Faivre L, Cormier-Daire V. Seckel Syndrome (Accessed on 17 Sep, 2012) https://www.orpha.net/data/patho/GB/uk-Seckel(05).pdf