Diagnosis of Meckel Gruber Syndrome Ultrasound Scan
International Journal of Biomedical Materials Research
Volume 4, Issue 3, December 2016, Pages: 31-34
Received: Sep. 27, 2016; Accepted: Oct. 31, 2016; Published: Dec. 8, 2016
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Ala Mohammed Abd Elgyoum, College of Applied Medical Science, Taif University, Taif, Saudi Arabia; Faculty of Radiological and Nuclear Medicine Science, National Ribat University, Khartoum, Sudan
Elrashed Abd Elrahim Mohammed, College of Applied Medical Science, Taif University, Taif, Saudi Arabia; Faculty of Radiological Science and Medical Imaging, Alzaiem Alazhari University, Khartoum, Sudan
Ahmed Abdelrahim Mohammed, Faculty of Radiological Science and Medical Imaging, Alzaiem Alazhari University, Khartoum, Sudan
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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.
Meckel Syndrome, Central Nervous System Malformations, Polydactyly and Hepatic Developmental Defects
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Ala Mohammed Abd Elgyoum, Elrashed Abd Elrahim Mohammed, Ahmed Abdelrahim Mohammed, Diagnosis of Meckel Gruber Syndrome Ultrasound Scan, International Journal of Biomedical Materials Research. Vol. 4, No. 3, 2016, pp. 31-34. doi: 10.11648/j.ijbmr.20160403.14
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Synd, whonamedit, A dictionary of medical eponyms, online in 16/10/2016. http://www.whonamedit.com/synd.cfm/2055.html
J. F. Meckel. Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, 7: 99–172.
G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, 93: 459–476.
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].
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].
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].
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].
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].
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.
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.
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.
Bergsma, D. (1979). "Birth Defects". Atlas and Compendium. London: Macmillan Press.
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.
Dr Henry Knipe◉Dr Yuranga Weerakkody◉ et al, Meckel-Gruber syndrome, https://radiopaedia.org/articles/meckel-gruber-syndrome, On line at Wednesday12/10/2016.
Nyberg, D. A. et al. (1990). "Meckel–Gruber syndrome; Importance of PrenatalDiagnosis". Journal of Ultrasound Medicine 9: 691–696.
N Dahiya, S Vijay, S Prabhakar, S Subhramaniam, Neha Dahiya, Antenatal Ultrasound diagnosis of Meckel-Gruber syndrome, 2001 | Volume : 11 | Issue : 4 | Page: 199-201
S. Munim, S. Nadeem, R. Sikandar, First Trimester Diagnosis of Meckel Gruber Syndrome in Pregnancy, Department of Obstetrics and Glynaecology, Aga Khan University Hospital, Karachi, On line in Wednesday12/10/2016.
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