Clinical and genetic heterogeneity in Meckel syndrome

Human Genetics

Volumn 101, Issue 1, 1997, Pages 88-92

  Paavola, Paulina ^a   Salonen, Riitta ^b   Baumer, Alessandra ^c   Schinzel, Albert ^c   Boyd, P A ^d   Gould, Steve ^d   Meusburger, H ^e   Tenconi, Romano ^f   Barnicoat, Angela ^g   Winter, Robin ^g   Peltonen, Leena ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e Hospital of Dornbirn   (Austria)

^f Servizio di Genetica Medica   (Italy)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; MECKEL SYNDROME; PRIORITY JOURNAL; SURVIVAL;

ABNORMALITIES, MULTIPLE; ALLELES; DNA; FEMALE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); LIVER CIRRHOSIS; LOD SCORE; MALE; NEURAL TUBE DEFECTS; PEDIGREE; PHENOTYPE; POLYCYSTIC KIDNEY DISEASES; POLYDACTYLY; PREGNANCY; SYNDROME;

EID: 0031440348     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050592     Document Type: Article

References (32)

1. Aaltonen J, Komulainen J, Vikman A, Palotie A, Wadelius C, Perheentupa J, Peltonen L (1993) Autoimmune polyglandular disease type I: exclusion map using amplifiable multiallelic markers in a microtiter well format. Eur J Hum Genet 1 : 164-171
2. Ahdab-Barmada M, Claasen D (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 49 : 610-620
3. Aleksic S, Budzilovich G, Greco MA, Reuben R, Feigin I, Pearson J, Epstein F (1984) Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. Childs Brain 11 : 99-111
4. Al-Gazali LI, Abdel Raziq A, Al-Shather W, Shahzadi R, Azhar N (1996) Meckel syndrome and Dandy-Walker malformation. Clin Dysmorphol 5 :73-76
5. Casamassima AC, Mamunes P, Gladstone IM Jr, Solomon S, Moncure C (1987) A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. Am J Med Genet 26 : 321-336
6. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morrissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380 : 152-154
7. Fraser FC, Lytwyn A (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Am J Med Genet 9 : 67-73
8. Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini-Neri ME (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and poJydactyly. Am J Med Genet 47 : 50-53
9. Goldston AS, Burke EC, D'Agostino A, McCaughey WTE (1963) Neonatal polycystic kidney with brain defect. Am J Dis Child 106 : 484-488
10. Harriot R, Hallam LA, Gray ES (1991) Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 39 : 207-210
11. Kaplan M, Ben-Neriah Z, Achiron R (1993) Survival in an infant with a prenatally diagnosed Meckel syndrome variant. Am J Perinatol 10 : 172-174
12. Kudo M, Tamura K, Fuse Y (1985) Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. Am J Clin Pathol 84 : 459-463
13. Lathrop GM, Lalouel J-M, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81 : 3443-3446
14. Lauras B, Fraisse J, Faugeroux F, La Selve A, Robert J-M, Freycon F (1976) Syndrome de Meckel. Pediatrie 31 : 435-445
15. Lowry RB, Hill RH, Tischler B (1983) Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 14 : 417-421
16. Malpuech G, Palcoux JB, Desbordes AM, Dalens B (1979) Syndrome de Meckel: généalogie inhabituelle. J Génét Hum 27 : 167-174
17. Mecke S, Passarge E (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet 14 : 97-103
18. Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982) The Meckel syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 62 : 240-245
19. Moerman P, Pauwels P, Vandenberghe K, Lauweryns JM, Fryns JP (1993) Goldston syndrome reconsidered. Genet Couns 4 : 97-102
20. Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome I7q21-q24. Nat Genet 11 : 213-215
21. Paetau A, Salonen R, Haltia M (1985) Brain pathology in the Meckel syndrome, a study of 59 cases. Clin Neuropathol 4 : 56-62
22. Rapola J, Salonen R (1985) Visceral anomalies in the Meckel syndrome. Teratology 31:193-201
23. Rehder H, Labbé F (1981) Prenatal morphology in Meckel's syndrome (with special reference to polycystic kidneys and double encephalocele). Prenat Diagn 1 : 161-172
24. Salonen R (1984) The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 18 : 671-689
25. Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 18 : 691-698
26. Seller MJ (1981) Phenotypic variation in Meckel syndrome. Clin Genet 20 : 74-77
27. Summers MC, Donnenfeld AE (1995) Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 55 : 57-61
28. Teebi AS, Al-Saleh QA, Oden H (1992) Meckel syndrome and neural tube defects in Kuwait. J Med Genet 29 : 140
29. Walbaum R, Dehaene P, Duthoit F (1967) Polydactylie familiale avec dysplasie neuro-cranienne. Ann Génét 10 : 39-41
30. Walpole IR, Goldblatt J, Hockey A, Knowles S (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: a distinct entity or Meckel syndrome? Am J Med Genet 39 : 294-298
31. Wright C, Healicon R, English C, Burn J (1994) Meckel syndrome: what are the minimum diagnostic criteria? J Med Genet 31 : 482-485
32. Young ID, Rickett AB, Clarke M (1985) High incidence of Meckel syndrome in Gujarati Indians. J Med Genet 22 : 301-304