Journals / Erciyes Tıp Dergisi / 2010 / Cilt: 32 - Sayı: 1

Genetic approach to the case with amniotic band sequence

Amniyotik bant sekanslı olguya genetik yaklaşım

Pages
61–64
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

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

As a result of her examination, we thought that the reason of her structural defects was Early Amniotic Band Rupture Sequence and gave genetic counselling according to the literature to her family.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Amniotic Band Sequence which can also be called as Early Amniotic Band Rupture Sequence; describes a variable group of anomalies by the cause of early rupture of the amnion membrane.
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Key Findings & Data:A fortnightly dismorphic infant applied to our clinic with the symptoms of right complete lip cleft, complete palate cleft, hands with structural defects and left foot amputation.
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Conclusion & Impact:As a result of her examination, we thought that the reason of her structural defects was Early Amniotic Band Rupture Sequence and gave genetic counselling according to the literature to her family.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Amniotic Band Sequence which can also be called as Early Amniotic Band Rupture Sequence; describes a variable group of anomalies by the cause of early rupture of the amnion membrane. A fortnightly dismorphic infant applied to our clinic with the symptoms of right complete lip cleft, complete palate cleft, hands with structural defects and left foot amputation. As a result of her examination, we thought that the reason of her structural defects was Early Amniotic Band Rupture Sequence and gave genetic counselling according to the literature to her family.

Özet

Erken Amniyon Rüptür Sekansı olarak da isimlendirilen amniyotik bant sekansı (ABS), amniyon zarının erken rüptürü ile oluşan konstriktif bandlar sonucu meydana gelen gelişimsel bozukluklar bütününü tanımlamaktadır. Sağ komplet dudak yarığı, komplet damak yarığı, her iki el parmaklarında gelişim kusuru ve sol ayak bileğinden konjenital amputasyonu olan 15 günlük kız olgu dismorfik özellikleri nedeniyle polikliniğimize başvurdu. Yapılan değerlendirmeler neticesinde; deformitelerin erken amniyotik bant rüptürü sonucunda gerçekleştiği düşünüldü ve aileye literatür bilgileri ışığında genetik danışmanlık verildi.

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Cite This Article

DÜNDAR, M., ARSLAN, K., UZAK, A. S. (2022). Genetic approach to the case with amniotic band sequence. Erciyes Tıp Dergisi, Cilt: 32 - Sayı: 1, 61–64. https://ajindex.com/articles/502578

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References (11)

  1. James W. Hanfon. Human Teratology. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics. New York: Churchıll Livingstone Medical Division of Pearson Proffesional Limited; 1997. p.704–705
  2. Chen. H. Amniotic Band Syndrome. In: Chen Harold, editor. Atlas of Genetic Diagnosis and Counseling. New Jersey: Humana Pres; 2006. p.42–49
  3. Brouns R, Ursem N, Lindemans J, et al. Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects. Prenat Diagn. 2008; 28: 485 – 493
  4. Bodamer OAF, Popek EJ, Bacino C. Atypical presentation of amniotic band sequence. Am J Med Genet 2001; 100: 100–102
  5. Pauli RM, Lebovitz RM, Meyer RD. Familial recurrence of terminal transverse defects of the arm. Clin Genet 1985; 27: 555–563
  6. Streeter GL. Focal deficiencies in fetal tissue and their relations to intrauterine amputation. Contrib Embryol, 1930; 22: 1- 46
  7. Bamforth JS. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet 1992; 44: 280–287
  8. Dyer JA, Chamlin S. Acquired raised bands of infancy: association with amniotic bands. Pediatric Dermatology. 2005; 22: 346–349
  9. Orioli IM, Ribeiro MG, Castilla EE. Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population. Am J Med Genet 2003; 118A: 135–145
  10. Kohn G. The amniotic band syndrome. A possible complication of amniocentesis. Prenat Diagn 1987; 7: 303–305
  11. Lissak A,Sharon A, Fruchter O, Kassel A, Sanderovitz J, Abramovici H. Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss. Am J Obstet Gynecol 1999; 181: 126–130.