Diagnosis of Meckel Gruber Syndrome Ultrasound Scan

Ala Mohammed Abd Elgyoum; Elrashed Abd Elrahim Mohammed; Ahmed Abdelrahim Mohammed

doi:doi:10.11648/j.ijbmr.20160403.14

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Diagnosis of Meckel Gruber Syndrome Ultrasound Scan

Ala Mohammed Abd Elgyoum, Elrashed Abd Elrahim Mohammed, Ahmed Abdelrahim Mohammed

Published in International Journal of Biomedical Materials Research (Volume 4, Issue 3)

Received: 27 September 2016 Accepted: 31 October 2016 Published: 8 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.

Published in	International Journal of Biomedical Materials Research (Volume 4, Issue 3)
DOI	10.11648/j.ijbmr.20160403.14
Page(s)	31-34
Creative Commons	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), 2016. Published by Science Publishing Group

Keywords

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

References

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[3]	G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, 93: 459–476.
[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].
[5]	Lu Y, Peng H, Jin Z, Cheng J, Wang S, Ma M, et al. Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3). PLoS One. 2013 Sep 5. 8(9):e73245. [Medline]. [Full Text].
[6]	Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007 Jul. 81(1):170-9. [Medline].
[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].
[8]	Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008 Jun. 82(6):1361-7. [Medline]. [Full Text].
[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.
[14]	Dr Henry Knipe◉Dr Yuranga Weerakkody◉ et al, Meckel-Gruber syndrome, https://radiopaedia.org/articles/meckel-gruber-syndrome, On line at Wednesday12/10/2016.
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APA Style

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://article.sciencepublishinggroup.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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TY  - JOUR
T1  - Diagnosis of Meckel Gruber Syndrome Ultrasound Scan
AU  - Ala Mohammed Abd Elgyoum
AU  - Elrashed Abd Elrahim Mohammed
AU  - Ahmed Abdelrahim Mohammed
Y1  - 2016/12/08
PY  - 2016
N1  - https://doi.org/10.11648/j.ijbmr.20160403.14
DO  - 10.11648/j.ijbmr.20160403.14
T2  - International Journal of Biomedical Materials Research
JF  - International Journal of Biomedical Materials Research
JO  - International Journal of Biomedical Materials Research
SP  - 31
EP  - 34
PB  - Science Publishing Group
SN  - 2330-7579
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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Author Information

Ala Mohammed Abd Elgyoum

College of Applied Medical Science, Taif University, Taif, Saudi Arabia
Elrashed Abd Elrahim Mohammed

College of Applied Medical Science, Taif University, Taif, Saudi Arabia
Ahmed Abdelrahim Mohammed

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

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APA Style

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

Copy | Download

@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://article.sciencepublishinggroup.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}
}

Copy | Download

TY  - JOUR
T1  - Diagnosis of Meckel Gruber Syndrome Ultrasound Scan
AU  - Ala Mohammed Abd Elgyoum
AU  - Elrashed Abd Elrahim Mohammed
AU  - Ahmed Abdelrahim Mohammed
Y1  - 2016/12/08
PY  - 2016
N1  - https://doi.org/10.11648/j.ijbmr.20160403.14
DO  - 10.11648/j.ijbmr.20160403.14
T2  - International Journal of Biomedical Materials Research
JF  - International Journal of Biomedical Materials Research
JO  - International Journal of Biomedical Materials Research
SP  - 31
EP  - 34
PB  - Science Publishing Group
SN  - 2330-7579
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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