Buradasınız

Anasayfa » Content

Meckel-Gruber Sendromu: Olgu Sunumu

Meckel-Gruber Syndrome: A Case Report

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2011

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Meckel-Gruber syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. Meckel-Gruber syndrome is a lethal and autosomal recessive condition. This syndrome seen rarely but have high risk of reccurence. In this report was presented a newborn with encephalosel and bilateral renal polycyst, absent polydactyly. In this case postnatal recognition requires genetic counseling of parents and obtaining early prenatal diagnosis in next pregnancy.
Bookmark/Search this post with
Abstract (Original Language): 
Meckel-Gruber sendromunun karakteristik triadı; oksipital meningo-ensefalosel, kistik displastik böbrekler ve postaksiyel polidaktilidir. Bu sendrom ölümcüldür ve otozomal resesif geçişlidir. Nadir görülmekle birlikte tekrarlama riski yüksektir. Burada polidaktili olmayan bilateral polikistik böbrek ve ensefalosel ile tanı koyduğumuz Meckel- Gruber sendromlu bir yenidoğan olgusunu; sonraki gebelikler için genetik danışmanlığın önemine ve erken prenatal tanısına vurgu yapmak üzere sunmaktayız.
FULL TEXT (PDF): 
PDF icon arastirmax-meckel-gruber-sendromu-olgu-sunumu.pdf
  • 4
272-274
  • Turkish

REFERENCES

References: 

1. Thomas ST. Stocker. Pediatric Pathology. Washington:
Lippincott J.B Company 1992; p:97.
2. Frank V, Bruchle NO, Mager S, et al.. Aberrant splicing is a common
mutational mechanism in MKS1, a key player in Meckel-Gruber
syndrome. Hum Mutat 2007; 28: 638-9.
3. 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; 3:568-83.
4. Balci S, Onol B, Ercal MD, Beksac S, Erzen C, Akhan O. Meckel
Gruber syndrome: a case diagnosed in utero. Turk J Pediatr 1992;
34: 179.
5. Kenneth LJ. mith’s Recognizable Patterns of Human
Malformation (5th eddition). Philadelphia: WB Saunders Co.
1997; 184-5.
6. Mozneukova V, Komenov E, Dimitrova L. Ultrasound diagnosis
of Meckel Gruber syndrome at 13 weeks of gestation in families
at risk-a case report and literature review. Akush Ginekol (Sofiia)
2002;41(5):42-5.
7. Morgan NV, Glissen P, Sharit SM, Baumber L. A novel locus for
Meckel Gruber Syndrome, MKS3, Maps to chromosome 8q24.
Hum Genet 2002; 111: 456-61.
8. Chen CP. Meckel syndrome: genetics, perinatal findings, and
differantial diagnosis. Taiwan J Obstet Gynecol 2007; 46: 9-14.
9. Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicoloides KH.
Diagnosis of the Meckel Gruber syndrome at eleven to fourteen
weeks’gestation. Am J Obstet Gynecol 1997; 176: 316-9.
10. Kanıt H, Yücel O, Kayhan K, İspahi Ç, Ayaz D, Bal F. Erken tanı almış
Meckel-Gruber sendromu. Perinatoloji Dergisi 2009; 17: 121–5.
11. Aksoy F, Özbay G, Erdamar S, Madazlı R, Şen C. Meckel-Gruber
sendromu. Perinatoloji Dergisi 1996; 4(l): 59-61.
12. Ergür AT, Taş F, Yildiz E, Kiliç F, Sezgin I. Meckel-gruber syndrome
associated with gastrointestinal tractus anomaly. Turk J Pediatri 2004;
46(4): 388-392.

Thank you for copying data from http://www.arastirmax.com