Abstract
Meckel-Gruber sendromu; oksipital ensefalosel, polidaktili ve renal anomalilerin birlikteliği ile karakterize nadir görülen otozomal resesif bir hastalıktır. Solunum sıkıntısı nedeniyle başvuran dokuz aylık erkek hastada polidaktili ve oksipital ensefaloselinin eşlik etmesi nedeni ile Meckel-Gruber sendromu tanısı aldı. Meckel-Gruber sendromu polidaktiliye, oksipital ensefalosel ve böbrek displazisinin eşlik etmesi ile diğer polidaktili sendromlarından ayrılır. Bu yazıda Meckel-Gruber sendromunun, oksipital ensefalosel ve renal anomalilerin tespiti ile erken dönemde tanıalabilen bir polidaktili sendromu olduğu vurgulanmıştır.
Keywords
References
- Stocker JT, Dehner. LP (eds). Pediatric Pathology 2 nd ed. Phila- delphia: Lip pincott/Williams & Wilkins, 1992;97
- Pardes JG, Engel IA, Blomquist K, Magid MS, Kazam E. Ultra- sonography of intrauterine Meckel’s syndrome. J Ultrasound Med 1984;3(1):33-5.
- Seller MJ. Phenotypic variation in Meckel syndrome. Clin Genet 1981;20(1):74-7.
- Gazioğlu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C,et al. Meckel-Gruber syndrome. Childs Nerv Syst 1998;14(3):142-5.
- Özuysal S, Kimya Y. Meckel Sendromu: Bir olgu sunumu. Türk Patoloji Dergisi 2001;17:78-80.
- Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35(6):497-501.
- Moerman P, Fryns JP, van der Steen K, Kleczkowska A, Lauw- eryns J. The pathology of trisomy 13 syndrome. A study of 12 cases. Hum genet 1988;80(4):349-56.
- Tanrıverdi HA, Hendrik HJ, Ertan K, SchimdtW. Meckel Gruber sydrome: a first trimester diagnosis of a recurrent case. Eur J Ultra- sound 2002;15(1-2):69-72.
- Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of oth- er syndromes presenting with this anomaly. Pediatr Dev Pathol 2000;3(6):568-83.
- Guven MA, Ceylaner S, Ceylaner G, Gul D, Ertas IE. Prenatal di- agnosis of Meckel Gruber syndrome presenting with renal agen- esis: report of a case. Genet Couns. 2006;17(1):65-8.
Abstract
Meckel-Gruber syndrome is an autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and renal anomalies. A nine-month-old infant presented with respiratory distress associated with polydactyly, occipital encephalocele and renal dysplasia was diagnosed as Meckel-Gruber syndrome. This syndrome can be differentiated from the other polydactyly syndromes by the presence of occipital encephalocele and renal dysplasia. In this report; we stressed that Meckel-Gruber syndrome is a polydactyly syndrome which could be diagnosed early by establishing occipital encephalocele and renal anomalies
References
- Stocker JT, Dehner. LP (eds). Pediatric Pathology 2 nd ed. Phila- delphia: Lip pincott/Williams & Wilkins, 1992;97
- Pardes JG, Engel IA, Blomquist K, Magid MS, Kazam E. Ultra- sonography of intrauterine Meckel’s syndrome. J Ultrasound Med 1984;3(1):33-5.
- Seller MJ. Phenotypic variation in Meckel syndrome. Clin Genet 1981;20(1):74-7.
- Gazioğlu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C,et al. Meckel-Gruber syndrome. Childs Nerv Syst 1998;14(3):142-5.
- Özuysal S, Kimya Y. Meckel Sendromu: Bir olgu sunumu. Türk Patoloji Dergisi 2001;17:78-80.
- Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35(6):497-501.
- Moerman P, Fryns JP, van der Steen K, Kleczkowska A, Lauw- eryns J. The pathology of trisomy 13 syndrome. A study of 12 cases. Hum genet 1988;80(4):349-56.
- Tanrıverdi HA, Hendrik HJ, Ertan K, SchimdtW. Meckel Gruber sydrome: a first trimester diagnosis of a recurrent case. Eur J Ultra- sound 2002;15(1-2):69-72.
- Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of oth- er syndromes presenting with this anomaly. Pediatr Dev Pathol 2000;3(6):568-83.
- Guven MA, Ceylaner S, Ceylaner G, Gul D, Ertas IE. Prenatal di- agnosis of Meckel Gruber syndrome presenting with renal agen- esis: report of a case. Genet Couns. 2006;17(1):65-8.
Details
| Other ID | JA49BP68DE |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | December 1, 2011 |
| Submission Date | December 1, 2011 |
| Published in Issue | Year 2011 Volume: 5 Issue: 1 |
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