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Journals / Medicine Science / 2015 / Cilt: 4 - Sayı: 2

Termination of a Pregnancy for the Third Time due to Meckel-Gruber Syndrome: Case Report and Review of Literature

Özhan ÖZDEMİR
Mustafa Erkan SARI
Rukiye DAMLAPİNAR
Dilek KALKAN
Ertuğrul ŞEN
Cemal Reşat ATALAY
Pages
2236–2243
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In cases with MGS, parents should be informed about the fetal prognosis and the recurrence risk for the next pregnancies

📌 3 Key Takeaways

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Objective & Hypothesis:Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder that is characterized by typical ultrasonographical (USG) findings including encephalocele, polydactyly and cystic dysplastic kidneys.
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Key Findings & Data:A 28 year-old multigravida (G7P3L3) presented with 14 weeks of gestation for routine antenatal examination.
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Conclusion & Impact:In cases with MGS, parents should be informed about the fetal prognosis and the recurrence risk for the next pregnancies
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder that is characterized by typical ultrasonographical (USG) findings including encephalocele, polydactyly and cystic dysplastic kidneys. In this article we report an antenatally detected MGS with a review of the literature. A 28 year-old multigravida (G7P3L3) presented with 14 weeks of gestation for routine antenatal examination. The mother had had a second degree intermarriage, and two previous pregnancies were learned to be terminated due to MGS. The USG showed occipital encephalocele, polydactyly, oligohydramnios and bilateral renal cystic dysplasia. After detecting the fetal karyotype as 46,XY, termination of pregnancy was performed. In the histopathological examination, encephalocele, polydactyly and bilateral dysplastic kidneys were observed and diagnosis of MGS was confirmed. In cases with MGS, parents should be informed about the fetal prognosis and the recurrence risk for the next pregnancies

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Cite This Article

ÖZDEMİR, Ö., SARI, M. E., DAMLAPİNAR, R., KALKAN, D., ŞEN, E., ATALAY, C. R. (2015). Termination of a Pregnancy for the Third Time due to Meckel-Gruber Syndrome: Case Report and Review of Literature. Medicine Science, Cilt: 4 - Sayı: 2, 2236–2243. https://ajindex.com/articles/277955

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References (15)

  1. Panduranga C, Kangle R, Badami R, Patil PV. Meckel-Gruber syndrome: Report of two cases. J Neurosci Rural Pract. 2012;3(1):56-9
  2. Sandesh V. Parelkar, Satish P. Kapadnis, Beejal V. Sanghvi, Prashant B. Joshi, Dinesh Mundada, Sanjay N. Oak SN. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013;8(2):154-7
  3. Pachi A, Giancotti A, Torcia F, de Prosperi V, Maggi E. Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case. Prenat Diagn. 1989;9(3):187-90
  4. Meckel JF: Beschreibund zweier, durch sehr aenliche Bildunsabweichungen entstelleter Geschwister. Dtsch Arch Physiol. 1822;7:99-172
  5. Gruber GB. Beitrege zur Frage gekoppelter? Missbildungen. (AkrocephaloSyndactylie und Dyssencephalia splanchnocystica). Beitr Path Anat. 1934;93:459-76
  6. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia spanchnocystica, the Grüber syndrome). Birth Defects Orig Art Ser. 1969;2:167-79
  7. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007;16(2):173-86
  8. Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat. 2009;30(8):E813-30
  9. Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of the ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol. 2000;3(6):568-83
  10. Ahdab-Barmada, M. and Claassen, D. A distinctive triad of malformations of the central nervous system in the Meckel–Gruber syndrome. J Neuropathol Exp Neurol. 1990;49(6):610-20
  11. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984;18(4):671-89
  12. Kuroda N, Ishiura Y, Kawashima M, Miyazaki E, Hayashi Y, Enzan H. Distribition of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome. Pathol Int. 2004;54(1):57-62
  13. Kompanje EJO. Features described and illustrated in 1684 suggesting Meckel- Gruber syndrome. Pediatr Dev Pathol. 2003;6(6):595-8
  14. Halal, F. Distal obstructive uropathy with polydactyly: a new syndrome? (Letter) Am. J. Med. Genet. 1986;24(4):753-7
  15. Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaide
Termination of a Pregnancy for the Third Time due to Meckel-Gruber Syndrome: Case Report and Review of Literature — AJIndex