Research Article
Year 2020,
Volume: 17 Issue: 1, 318 - 319, 31.03.2020
Abstract
Meckel-Gruber Sendromu (MGS) sistemik malformas¬yonlar ile karakterize, otozomal resesif geçişli, nadir görülen lethal bir send¬romdur. İnsidansı 1/13250-140000 canlı doğum¬dur. Sendromun tanı için klasik triadı kistik renal displazi, ensefalo¬sel ve postaksiyel polidaktilidir. Kesin tanı için bu bulgulardan en az ikisi bulunmalıdır. Dandy-Walker ve Arnold Chiari malformasyonla¬rı, mikrosefali, hidrosefali gibi santral sinir sistemi bulguları, göz anomalileri, yarık damak dudak, ka¬raciğerde portal alanlarda safra duktuslarında pro¬liferasyon ve fibrozis ile karakterize duktal kanal malformasyonu, konjenital kalp anomalileri, sur¬renal hipoplazisi, erkek genital organ hipoplazisi, erkek psödohermafroditizm, kriptorşidizm, pankre¬as kistleri ve fibrozis, üreter agenezisi, hipoplazisi veya duplikasyonu, mesane yokluğu ve hipoplazisi gibi çok çeşitli anomaliler görülebilir. Bu yazıda fenotipik özellikleri ile MGS tanısı alan bir olgu literatür bilgileri ışığında sunuldu.
References
- REFERANS 1. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017;5:244.
- REFERANS 2. Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol. 2000;3:568-583.
- REFERANS 3. Meckel J. Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 1882;7:99–172.
- REFERANS 4. Gruber G. Beitrage zur frage “gekoppelter” Miszbildungen (Akrocephalo-syndactylie und dysencephalia splanchnocystica). Beitr Pathol Anat. 1934;93:459–76.
- REFERANS 5. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia splanchnocystica, the Grüber syndrome Birth Defects Orig Art Ser 1969;2:167–79.
- REFERANS 6. Salonen R, Paavola P. Meckel syndrome. J Med Genet. 1998;35:497–501.
- REFERANS 7. Danıela Veronıca Chırıac , Lavınıa Marıa Hogea, Ana Crıstına Bredıcean , A rare case of Meckel–Gruber syndrome, Rom J Morphol Embryol. 2017; 58:1023–1027.
- REFERANS 8. Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O. Meckel Gruber syn¬drome: a case diagnosed in utero. Turk J Pediatr. 1992;34:179-85.
- REFERANS 9. Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynaecol Obstet. 1992;39:327–32.
- REFERANS 10. Sepulveda W, Sebire NJ, Souka A, Snijders RJM, Nicolaides KH. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks’ gestation. Am J Obstet Gynecol. 1997;176:316–9.
- REFERANS 11. Chao A, Wong AM, Hsueh C, Chang YL, Wang TH. Integration of imaging and pathological studies in Meckel-Gruber syndrome. Prenat Diagn. 2005;25:267–8.
- REFERANS 12. Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42:619–25.
- REFERANS 13. Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007;46:9–14.
Year 2020,
Volume: 17 Issue: 1, 318 - 319, 31.03.2020
Abstract
References
- REFERANS 1. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017;5:244.
- REFERANS 2. Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol. 2000;3:568-583.
- REFERANS 3. Meckel J. Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 1882;7:99–172.
- REFERANS 4. Gruber G. Beitrage zur frage “gekoppelter” Miszbildungen (Akrocephalo-syndactylie und dysencephalia splanchnocystica). Beitr Pathol Anat. 1934;93:459–76.
- REFERANS 5. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia splanchnocystica, the Grüber syndrome Birth Defects Orig Art Ser 1969;2:167–79.
- REFERANS 6. Salonen R, Paavola P. Meckel syndrome. J Med Genet. 1998;35:497–501.
- REFERANS 7. Danıela Veronıca Chırıac , Lavınıa Marıa Hogea, Ana Crıstına Bredıcean , A rare case of Meckel–Gruber syndrome, Rom J Morphol Embryol. 2017; 58:1023–1027.
- REFERANS 8. Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O. Meckel Gruber syn¬drome: a case diagnosed in utero. Turk J Pediatr. 1992;34:179-85.
- REFERANS 9. Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynaecol Obstet. 1992;39:327–32.
- REFERANS 10. Sepulveda W, Sebire NJ, Souka A, Snijders RJM, Nicolaides KH. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks’ gestation. Am J Obstet Gynecol. 1997;176:316–9.
- REFERANS 11. Chao A, Wong AM, Hsueh C, Chang YL, Wang TH. Integration of imaging and pathological studies in Meckel-Gruber syndrome. Prenat Diagn. 2005;25:267–8.
- REFERANS 12. Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42:619–25.
- REFERANS 13. Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007;46:9–14.
There are 13 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Paediatrics |
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 31, 2020 |
| Submission Date | December 29, 2019 |
| Acceptance Date | February 9, 2020 |
| Published in Issue | Year 2020 Volume: 17 Issue: 1 |
