Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.
Main Article Content
Keywords
Meckel Gruber syndrome, Encephalocele, Polycystic kidney, Polydactyly, consanguinity
Abstract
Meckel-Gruber Syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by a triad of occipital encephalocele, polycystic kidneys, and polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births, with a 25% reoccurrence rate. Prenatally, diagnosis can be made by ultrasonography for fetal anomalies at 11 to 14 weeks of pregnancy, which can guide management decisions. We report a female baby with the characteristic features of this syndrome, which was confirmed by autopsy findings.
References
2. Gruber GB. Beitrage zur Frage “gekoppelter” miss-bildungen (Akrocephalosyndactylie und Dysencephalia splanchnocystica). Beitr Pathol Anat. 1934; 93:459–76.
3. Parelkar S V., Kapadnis SP, Sanghvi B V., Joshi PB, Mundada D, Oak SN. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013 May;8(2):154–7.
4. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber syndrome: An update on diagnosis, clinical management, and research advances. Vol. 5, Frontiers in Pediatrics. Frontiers Media S.A.; 2017.
5. Salonen R. The Meckel Syndrome: Clinicopathological findings in 67 patients. Am J Med Genet . 1984 Aug;18(4):671–89.
6. Jones SK. Smith’s Recognizable Patterns of Human Malformation. In: Smith JF, editor. Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier; 2006. p. 198–9.
7. Paavola P, Salonen R, Weissenbach J, Peltonen L. The Locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 1995 Oct;11(2):213–5.
8. Mohammed S, Ibrahim F, Kamil K, Satti SA. Meckel-Gruber Syndrome: Antenatal diagnosis and ethical perspective. Sudan J Paediatr. 2012;12(2):70–2.
9. Bello OA, Ojewole OE, Babatunde HE, Anoba S. Meckel Gruber Syndrome In a Nigerian Child: A Case Report. Trop J Health Sci. 2019; 26(1): 56-58.
10. Amadou A, Agbangba KA, Amoussou K, Dougaguibe B, Watara G, Sonhaye et al. Meckel-Gruber syndrome in Togo: Prenatal ultrasound and computer tomography diagnosis. Int J Case Rep Imag. 2017;8(10):648
Article Sidebar
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
This is an open-access journal and articles are distributed under the terms of the Creative Commons Attribution Non-Commercial Share-Alike License 4.0. This licence allows users to download and share, remix, tweak and build upon the article for non-commercial purposes, so long as the original authorship is acknowledged and the new creations are licensed under identical terms.