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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2013; 03(01): 83-85
DOI: 10.1055/s-0040-1703642
DOI: 10.1055/s-0040-1703642
Case Report
MECKEL-GRUBER SYNDROME - A CASE REPORT

Abstract
Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder. It is characterized by triad of features having occipital meningoencephalocoele, polycystic kidneys and post-axial polydactyly. We report a rare case of MGS which was diagnosed by antenatal ultrasound examination and confirmed later when aborted at 21 weeks of gestation.
Publikationsverlauf
Artikel online veröffentlicht:
29. April 2020
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Thieme Medical and Scientific Publishers Private Ltd.
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References
- 1 Ramachandran U, Malla T, Joshi KS. Meckel-Gruber syndrome - Case Note. Kathmandu University Medical Journal 2006; 4 (3), 15:334-36.
- 2 Salonen R, Paavola P. Meckel syndrome. Journal of Medical Genetics 1998; 35:497-501
- 3 Young I D, Rickett AB, Clarke M. High incidence of Meckel's syndrome in Gujarati Indians. Journal of Medical Genetics 1985; 22:301-04
- 4 Wright C, Healicon R, English C, Burn J. Meckel syndrome: what are the minimum diagnostic criteria? Journal of Medical Genetics 1994; 31:482-85.
- 5 Sudan MS, Gupta S, Sharma N, Nargotra RC. Meckel-Gruber Syndrome: Sonographic Detection- Case report. JK Science 1999;1(1): 30-32.
- 6 Fried K, Liban E, Lurie M, Friedman S, Reisner SH. Polycystic Kidneys Associated with Malformations of the Brain, Polydactyly and Other Birth defects in Newborn Sibs. Journal of Medical Genetics 1971; 8:285-90.
- 7 Balci S et al., Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation- A Case. The Turkish Journal of Pediatrics 2004; 46:283-88.
- 8 Gupta M, Mehta A, Gupta R, Gupta R, Singh S. Prenatal Diagnosis of Meckel-Gruber Syndrome with Dandy Walker Malformation- Case report. JK Science 2005; 7(3): 164-66.