International Journal of Biomedical Materials Research

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Diagnosis of Meckel Gruber Syndrome Ultrasound Scan

Received: 27 September 2016    Accepted: 31 October 2016    Published: 08 December 2016
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Abstract

Meckel syndrome is a rare lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. 34 years old, neither diabetic nor hypertensive, she is gravida III, para I, came for first ultrasound scan with amenorrhea for four months. The ultrasound scan shows single viable fetus, gestational age was 19 weeks + 5 days, with enlarged highly echogenic kidneys.

DOI 10.11648/j.ijbmr.20160403.14
Published in International Journal of Biomedical Materials Research (Volume 4, Issue 3, December 2016)
Page(s) 31-34
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This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Meckel Syndrome, Central Nervous System Malformations, Polydactyly and Hepatic Developmental Defects

References
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[4] Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006 Feb. 38(2):191-6. [Medline].
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[7] Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul. 39(7):875-81. [Medline].
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[9] Dawe, H. R.; Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K. and Johnson, C. A. (2007). "The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Human Molecular Genetics 16 (2): 173–186.doi:10.1093/hmg/ddl459. PMID 17185389.
[10] Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (Sep 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders".Annual Review of Genomics and Human Genetics 7: 125–148.doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved2008-06-15.
[11] Kyttälä, Mira (May 2006). "Identification of the Meckel Syndrome Gene (MKS1) Exposes a Novel Ciliopathy" (pdf). National Public Health Institute, Helsinki. Retrieved 2008-07-06.
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[13] Salonen, R.; Norio, R.; Reynolds, James F. (1984). "The Meckel syndrome: Clinicopathological Findings in 67 Patients". American Journal of Medical Genetics18 (4): 671–689. doi:10.1002/ajmg.1320180414. PMID 6486167.
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Author Information
  • College of Applied Medical Science, Taif University, Taif, Saudi Arabia; Faculty of Radiological and Nuclear Medicine Science, National Ribat University, Khartoum, Sudan

  • College of Applied Medical Science, Taif University, Taif, Saudi Arabia; Faculty of Radiological Science and Medical Imaging, Alzaiem Alazhari University, Khartoum, Sudan

  • Faculty of Radiological Science and Medical Imaging, Alzaiem Alazhari University, Khartoum, Sudan

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    Ala Mohammed Abd Elgyoum, Elrashed Abd Elrahim Mohammed, Ahmed Abdelrahim Mohammed. (2016). Diagnosis of Meckel Gruber Syndrome Ultrasound Scan. International Journal of Biomedical Materials Research, 4(3), 31-34. https://doi.org/10.11648/j.ijbmr.20160403.14

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    ACS Style

    Ala Mohammed Abd Elgyoum; Elrashed Abd Elrahim Mohammed; Ahmed Abdelrahim Mohammed. Diagnosis of Meckel Gruber Syndrome Ultrasound Scan. Int. J. Biomed. Mater. Res. 2016, 4(3), 31-34. doi: 10.11648/j.ijbmr.20160403.14

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    AMA Style

    Ala Mohammed Abd Elgyoum, Elrashed Abd Elrahim Mohammed, Ahmed Abdelrahim Mohammed. Diagnosis of Meckel Gruber Syndrome Ultrasound Scan. Int J Biomed Mater Res. 2016;4(3):31-34. doi: 10.11648/j.ijbmr.20160403.14

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  • @article{10.11648/j.ijbmr.20160403.14,
      author = {Ala Mohammed Abd Elgyoum and Elrashed Abd Elrahim Mohammed and Ahmed Abdelrahim Mohammed},
      title = {Diagnosis of Meckel Gruber Syndrome Ultrasound Scan},
      journal = {International Journal of Biomedical Materials Research},
      volume = {4},
      number = {3},
      pages = {31-34},
      doi = {10.11648/j.ijbmr.20160403.14},
      url = {https://doi.org/10.11648/j.ijbmr.20160403.14},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.ijbmr.20160403.14},
      abstract = {Meckel syndrome is a rare lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. 34 years old, neither diabetic nor hypertensive, she is gravida III, para I, came for first ultrasound scan with amenorrhea for four months. The ultrasound scan shows single viable fetus, gestational age was 19 weeks + 5 days, with enlarged highly echogenic kidneys.},
     year = {2016}
    }
    

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    T1  - Diagnosis of Meckel Gruber Syndrome Ultrasound Scan
    AU  - Ala Mohammed Abd Elgyoum
    AU  - Elrashed Abd Elrahim Mohammed
    AU  - Ahmed Abdelrahim Mohammed
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    T2  - International Journal of Biomedical Materials Research
    JF  - International Journal of Biomedical Materials Research
    JO  - International Journal of Biomedical Materials Research
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    PB  - Science Publishing Group
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    UR  - https://doi.org/10.11648/j.ijbmr.20160403.14
    AB  - Meckel syndrome is a rare lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. 34 years old, neither diabetic nor hypertensive, she is gravida III, para I, came for first ultrasound scan with amenorrhea for four months. The ultrasound scan shows single viable fetus, gestational age was 19 weeks + 5 days, with enlarged highly echogenic kidneys.
    VL  - 4
    IS  - 3
    ER  - 

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