Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

Journal of Pediatric Neurosciences

Volumn 8, Issue 2, 2013, Pages 154-157

  Parelkar, Sandesh V ^a   Kapadnis, Satish P ^a   Sanghvi, Beejal V ^a   Joshi, Prashant B ^a   Mundada, Dinesh ^a   Oak, Sanjay N ^a  

^a KEM HOSPITAL   (India)

Author keywords

Encephalocele; Meckel Gruber syndrome; polycystic kidney; polydactyly

Indexed keywords

ANTENATAL ULTRASONOGRAPHY; ANTERIOR FONTANEL; ARTICLE; ARTIFICIAL VENTILATION; BODY POSTURE; BONE DEFECT; BRAIN HERNIA; BRAIN MALFORMATION; BRAIN THIRD VENTRICLE; COMPUTER ASSISTED TOMOGRAPHY; ENCEPHALOCELE; HUMAN; HYDRAMNIOS; KIDNEY POLYCYSTIC DISEASE; MECKEL SYNDROME; MENINX; MULTICYSTIC DYSPLASTIC KIDNEY; POSTOPERATIVE CARE; SYSTEMATIC REVIEW; ULTRASOUND; VENTILATOR ASSOCIATED PNEUMONIA;

EID: 84884656185     PISSN: 18171745     EISSN: 19983948     Source Type: Journal    
DOI: 10.4103/1817-1745.117855     Document Type: Article

References (18)

1. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006;38:191-6.
2. Young ID, Rickett AB, Clarke M. High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet 1985;22:301-4.
3. Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynaecol Obstet 1992;39:327-32.
4. Johann FM. (The younger) Editorial. (1781-1833). JAMA 1970;214:138-9.
5. Gruber BG. Beiträge zur frage gekoppelter missbildungen. (Acrocephalo-Syndactylieund Dysencephalia spanchnocystica). Beitr Path Anat 1934;93:459-76.
6. de Silva MV, Senanayake H, Siriwardana KD. Meckel Gruber Syndrome: Occurrence in non-consanguineous marriages. Ceylon Med J 2004;49:30-1.
7. Vince JD, Baki M, Chakravarti P. Meckel-Gruber syndrome: Report of an affected Papua New Guinean family. P N G Med J 1998;41:83-4.
8. Ramachandran U, Malla T, Joshi KS. Meckel-Gruber syndrome. Kathmandu Univ Med J 2006;4:334-6.
9. Walsh M, Graupman P. Meckel-Gruber Syndrome in association with an occipital meningocele. Pediatr Neurosurg 2006;42:333-4.
10. Abdelmoneim EM, Abdelmutalab I, Ilham MO. Meckel-Gruber syndrome: A rare and lethal anomaly. Sudanese Paediatr 2012;12:93-96.
11. Gazio-lu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C, et al. Meckel-Gruber syndrome. Child's Nerv Syst 1998;14:142-5.
12. Salonen R, Norio R. The Meckel syndrome in Finland: Epidemiologic and genetic aspects. Am J Med Genet 1984;18:691-8.
13. Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE. Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet Suppl 1987;3:395-410.
14. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia spanchnocystica, the Grüber syndrome). Birth Defects 1969;2:167-79.
15. Su SL, Liu CM, Lee JN. Prenatal diagnosis of Meckel-Gruber syndrome case reports. Gaoxiong Yi Xue Ke Xue Za Zhi 1995;11:127-32.
16. 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;11:213-5.
17. Meckel JF. Beschreibung Z. Durch sehr ähnliche bildungsabweichungen entstelter geschwister. Dtsch Arch Physiol 1822;7:99-172.
18. Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH. Diagnosis of Meckel Gruber syndrome at eleven to fourteen weeks' gestation. Am J Obstet Gynecol 1997;176:316-9.