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A Case Of Turner Syndrome Associated With Lymphedema And Aortic Coarctation

Year 2016, Özel Sayı, 27 - 29, 01.06.2016

Abstract

Turner Syndrome, which only affects girls, is a common chromosomal disorder with an incidence of 1/10000 live birth or 1/2500 live female birth. Typical symptoms of the syndrome are short stature, webbed neck, low hairline, shield of the breast, discrete nipples, lymphedema in hands and feet, cardiovascular disorders, kidney abnormalities, gonadal dysgenesis, and low level of social intelligence. In this report, we presented a case of female newborn whose phenotypic and caryotypic findings were consistent with Turner Syndrome. She underwent an operation for aortic coarctation and developed blister and ulceration in the right foot related to lymphedema. The patient was discharged in good health by multidisciplinary care and follow-up.

References

  • Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004; 351:1227–1238.
  • Turner HH. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 1938; 23:566-74.Cited in: Wiedemann HR, Glatzl J. Follow-up of Ullrich’s original patient with “Ullrich-Turner” syndrome. Am J Med Genet 1991;41:134-6.
  • Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121- 52.
  • Gotzsche CO, Krag-Olsen B, Nielsen J,Sorensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child 1994; 71: 433-43.
  • Mazzanti L,Cacciari E.Congenital heart disease in patients with Turner’s Syndrome. Italian Study Group for Turner syndrome (ISGTS).J Pediatr 1998;133:688-92.
  • Hall JG. Chapter 67 - Chromosomal Clinical Abnormalities. In: Behrman RE, Kliegman RM, Arvin AM (eds.) Nelson Textbook of Pediatrics, 15th edition. 1996, Philadelphia: W.B. Saunders Company, 312-320.
  • Balat A, Akıncı A, Turgut M, Demirhan O. Bir Olgu Nedeniyle Turner Sendromu ve Literatürün Gözden Geçirilmesi. Turgut Özal Tıp Merkezi Dergisi 1997; 4:449-452.
  • Hausler G, Schemper M, Frisch H. Spontaneous growth in Turner syndrome: Evidence for a minor pubertal growth spurt. In: Ranke MB, Rosenfeld RG (eds). Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV, NY, 1991: 67-73.
  • Davenport ML. Approach to the patient withTurner syndrome. J Clin Endocrinol Metab 2010; 95: 1487-95.
  • Rovenska E, Rovenskı J. Lymphatic vessels:structure and function. IMAJ 2011; 13: 762-8.
  • Radhakrishnan K, Rockson SG. The clinical spectrum of lymphatic disease. Ann N Y Acad Sci 2008;1131:155-85.

Lenfödem Ve Aort Koarktasyonunun Eşlik Ettiği Turner Sendromlu Bir Olgu Sunumu

Year 2016, Özel Sayı, 27 - 29, 01.06.2016

Abstract

Turner Sendromu insidansı 1/10.000 canlı doğum veya 1/2500 canlı kız bebek doğumu olan, sadece kızları etkileyen sık görülen bir cinsiyet kromozom anomalisidir. Sendromun tipik bulguları kısa boy, yele boyun, düşük saç çizgisi, kalkan göğüs, ayrık meme başları, el ve ayaklarda lenfödem, kardiyovasküler bozukluklar, böbrek anomalileri, gonadal disgenezi ve düşük sosyal zekadır. Bu yazıda fenotipik ve karyotipik özellikleriyle Turner Sendromu ile uyumlu olan, aort koarktasyonu nedeniyle opere edilen, sağ ayakta lenfödem ilişkili bül ve ülserasyon gelişen, multidisipliner bakım ve izlem sayesinde sağlıklı olarak taburcu edilen bir yenidoğan olgu sunuldu.

References

  • Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004; 351:1227–1238.
  • Turner HH. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 1938; 23:566-74.Cited in: Wiedemann HR, Glatzl J. Follow-up of Ullrich’s original patient with “Ullrich-Turner” syndrome. Am J Med Genet 1991;41:134-6.
  • Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121- 52.
  • Gotzsche CO, Krag-Olsen B, Nielsen J,Sorensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child 1994; 71: 433-43.
  • Mazzanti L,Cacciari E.Congenital heart disease in patients with Turner’s Syndrome. Italian Study Group for Turner syndrome (ISGTS).J Pediatr 1998;133:688-92.
  • Hall JG. Chapter 67 - Chromosomal Clinical Abnormalities. In: Behrman RE, Kliegman RM, Arvin AM (eds.) Nelson Textbook of Pediatrics, 15th edition. 1996, Philadelphia: W.B. Saunders Company, 312-320.
  • Balat A, Akıncı A, Turgut M, Demirhan O. Bir Olgu Nedeniyle Turner Sendromu ve Literatürün Gözden Geçirilmesi. Turgut Özal Tıp Merkezi Dergisi 1997; 4:449-452.
  • Hausler G, Schemper M, Frisch H. Spontaneous growth in Turner syndrome: Evidence for a minor pubertal growth spurt. In: Ranke MB, Rosenfeld RG (eds). Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV, NY, 1991: 67-73.
  • Davenport ML. Approach to the patient withTurner syndrome. J Clin Endocrinol Metab 2010; 95: 1487-95.
  • Rovenska E, Rovenskı J. Lymphatic vessels:structure and function. IMAJ 2011; 13: 762-8.
  • Radhakrishnan K, Rockson SG. The clinical spectrum of lymphatic disease. Ann N Y Acad Sci 2008;1131:155-85.
There are 11 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

Nurdan Dinlen Fettah This is me

Ahmet Özyazıcı This is me

Dilek Dilli This is me

İlker Ertuğrul This is me

Hakan Aydın This is me

Ömer Faruk Çiçek This is me

Hilmi Şen This is me

Veysel Murat Işık This is me

Ayşegül Zenciroğlu This is me

Nurullah Okumuş This is me

Publication Date June 1, 2016
Published in Issue Year 2016 Özel Sayı

Cite

Vancouver Fettah ND, Özyazıcı A, Dilli D, Ertuğrul İ, Aydın H, Çiçek ÖF, Şen H, Işık VM, Zenciroğlu A, Okumuş N. Lenfödem Ve Aort Koarktasyonunun Eşlik Ettiği Turner Sendromlu Bir Olgu Sunumu. JGON. 2016;13:27-9.