Spectrum of anomalies in Fanconi anaemia

Journal of Medical Genetics

Volumn 19, Issue 6, 1982, Pages 412-416

  Glanz, A ^a   Fraser, F C ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AUDITORY SYSTEM; BLOOD AND HEMOPOIETIC SYSTEM; BONE; CLINICAL ARTICLE; CONGENITAL DISORDER; DIAGNOSIS; ETIOLOGY; FANCONI ANEMIA; GENITAL MALFORMATION; GROWTH RETARDATION; HEARING IMPAIRMENT; HEREDITY; HUMAN; HYPERPIGMENTATION; HYPOSPADIAS; KIDNEY MALFORMATION; LEUKOPENIA; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MUSCULOSKELETAL SYSTEM; PHENOTYPE; POIKILOCYTOSIS; POLYDACTYLY; RADIUS APLASIA; SIBLING; SKIN PIGMENTATION; THROMBOCYTOPENIA; THUMB HYPOPLASIA; THUMB MALFORMATION;

EID: 0020351041     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.19.6.412     Document Type: Article

References (53)

1. Hirschmann, R.J.; R, Shulman N.; Abuelo, J.G.; Whang-Peng, J. Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features Ann Intern Med 1969 107 71
2. Preus, M. The numerical versus intuitive approach to syndrome nosology Birth Defects 1980 XVI: 93
3. Opitz, J.M.; Herrmann, J.; Petterson, J.C.; Bersu, E.T.; Colacino, S. Terminological, diagnostic, nosological and anatomical-development aspects of developmental defects in man Adv Hum Genet 1969 71 9
4. Fanconi, G. Familiare infantile pernizosaaritige anamie Z Kinderheilkd 1927 117 257
5. Dawson, J.P. Congenital pancytopenia with multiple congenital anomalies (Fanconi type) Pediatrics 1955 15 325
6. JF, Estren S.Suess; W, Dameshek Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome) Blood 1947 10.1182/blood.V2.1.85.85 2 85
7. Bloom, G.E. Disorders of bone marrow production Pediatr Clin North Am 1972 10.1016/S0031-3955(16)32778-X 19 983
8. Schroeder, T.M.; KrUger, Tilgen D.; J, Vogel; F. Formal genetics of Fanconi's anemia Hum Genet 1976 10.1007/BF00295817 32 257
9. Rohr, K. Familial panmyelophthisis: Fanconi syndrome in adults Blood 1949 10.1182/blood.V4.2.130.130 4 130
10. Skikne, B.S.; Lynch, SR, Bezwoda; W.R. Fanconi's anaemia with special reference to erythrokinetic features S Afr Med J 1978 53 43
11. Swift, M.; Zimmermann, D.; McDonough, E.R. Squamous cell carcinomas in Fanconi's anemia JAMA 1971 10.1001/jama.1971.03180280079018 216 325
12. McDonough, E.R. Fanconi anemia syndrome Arch Otolaryngol 1970 10.1001/archotol.1970.04310030074017 92 284
13. McCabe, C.M.E.; Lange, R.D.; Crosby, C.W.H. The coincidence of hemoglobin J and Fanconi's syndrome of hypoplastic anemia with hypoplasia of the spleen in a young man Am J Med 1957 10.1016/0002-9343(57)90204-8 23 329
14. Bargman, G.J.; Shahidi, N.T.; Gilbert, E.F.; Opitz, J.M. Studies of malformation syndromes in man. XLVIII: disappearance of spermatogonia in the Fanconi anemia syndrome Eur J Pediatr 1977 10.1007/BF00480592 125 163
15. Berger, R.; Bussel, A.; Schenmetzler, C. Somatic segregation and Fanconi anaemia Clin Genet 1977 11 409
16. Berger, R.; Bussel, A.; Schenmetzler, C. Anomalies chromosomique et anemie de Fanconi Nouv Rev Fr Hematol 1975 15 539
17. Hayashi, K.; Schmid, W. The rate of SCE parallel to spontaneous chromosomal breakage in FA and to trenimon-induced aberrations in human lymphocytes and fibroblasts Humangenetik 1975 29 201
18. Hill, R.D. Familial cancer on a Scottish island Br Med J 1976 10.1136/bmj.2.6032.401 2 401
19. Jones, R. Fanconi's anemia; simultaneous onset of symptoms in two siblings JPediatr 1976 10.1016/S0022-3476(76)80751-2 88 152
20. Juhl, J.H.; Wesenberg, R.L.; Gwinn, J.L. Roentgenographic findings in Fanconi's anemia Radiology 1967 10.1148/89.4.646 89 646
21. Kunz, H. Hypoplastic anemia with multiple congenital defects (Fanconi's syndrome) Pediatrics 1952 10 286
22. Levy, W. Aplastic anemia in siblings with multiple congenital anomalies (the Fanconi type) J Pediatr 1952 10.1016/S0022-3476(52)80231-8 40 24
23. Minage, H.; Steinbach, H.L. Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta) AJR 1966 10.2214/ajr.97.1.100 97 100
24. Nilsson, L.R. Chronic pancytopenia with multiple congenital abnormalities (Fanconi's anaemia) Acta Paediatr Scand 1960 518 49
25. Pochedly, C.; Collipp, P.J.; Wolmar, SR, Suwansirikul; S. Regvani 1. Fanconi's anemia with growth hormone deficiency J Pediatr 1971 10.1016/S0022-3476(71)80064-1 79 93
26. Prindull, G.; Stubbe, P.; anaemia. I, Kratzer W.Fanconi's Case histories, clinical and laboratory findings in six affected siblings Z Kinderheilkd 1975 120 37
27. Silver, H.K.; Blair, W.C.; Kempe, C.H. Fanconi syndrome. Multiple congenital anomalies with hypoplastic anemia Am J Dis Child 1952 83 14
28. Higashi 0, Koseki E, Higuchi M A case of Fanconi's syndrome with study of peroxidase activity of the erythron Arch Dis Child 1953 10.1136/adc.28.141.359 28 359
29. McDonald, R.; Goldschmidt, B. Pancytopenia with congenital defects (Fanconi's anaemia) Arch Dis Child 1960 367 35
30. Grislain, JR, Lemoine; P, Mertouzet; N. Nanisme type Fanconi avec myelose aplasique terminale Arch Fr Pediatr 1957 14 415
31. Francis, R.C.; Moir, R.A.; Swift, P.N. The value of splenectomy in Fanconi's anaemia Arch Dis Child 1955 10.1136/adc.30.153.439 30 439
32. Cowdell, R.H.; Phizackerley, P.J.R.; Pyke, D.A. Constitutional anemia (Fanconi syndrome) and leukemia in two brothers Blood 1955 10.1182/blood.V10.8.788.788 10 788
33. Lynch, M.J.; Sherman, L.; Elliott, F.G. Fanconi's anemia (aplastic anemia with congenital abnormalities) Can Med Assoc J 1954 71 273
34. Crisalli, M.; Sansone, G. Constitutional infantile panmyelopathy with multiple malformations (Fanconi anemia) Helv Paediatr Acta 1952 7 299
35. Delage, J.M. Pancytopenie familiale Laval Med 1956 21 334
36. Ahjuja, B.K.; Jain, A.M.; Sethi, A.S. Fanconi's anemia Indian J Pediatr 1969 10.1007/BF02756334 36 284
37. Bushkell, L.L.; Kersey, J.H.; Cervenka, J. Chromosomal breaks in T and B lymphocytes in Fanconi's anaemia Clin Genet 1976 10.1111/j.1399-0004.1976.tb01616.x 9 583
38. Esparza, A.; Thompson, W.R. Familial hypoplastic anemia with multiple congenital anomalies. Report of 3 cases Rhode Island Med J 1966 49 103
39. McAlpine, S.G. Familial hypoplastic anaemia with congenital abnormalities (Fanconi's syndrome). Report of a case Glasgow MedJ 1954 153 46
40. Meme, J.S.; Oduori, M.L.; Gripenberg, U. Fanconi's aplastic anaemia: a case report of an affected African child and a review of the literature East Afr MedJ 1975 52 462
41. Pedersen, F.K.; Hertz, H.; Lundsteen, C.; Platz, P.; Thomsen, M. Indication of primary immune deficiency in Fanconi's anaemia Acta Paediatr Scand 1977 10.1111/j.1651-2227.1977.tb07983.x 66 745
42. Perkins, J.; Timson, J.; Emery, A.E.H. Clinical and chromosomal studies in Fanconi's aplastic anaemia J Med Genet 1969 10.1136/jmg.6.1.28 6 28
43. Cassimos, C.; Zannos, L. Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome) Am J Dis Child 1952 84 347
44. Goldstein, R. Hypoplastic anemia with multiple congenital anomalies (Fanconi syndrome) Am J Dis Child 1955 89 168
45. Chappell, B.S. Transposition of external genitalia in a case with Fanconi type deformity J Urol 1958 10.1016/S0022-5347(17)66243-8 79 115
46. Auerbach, A.D.; Warburton, D.; Bloom, A.D.; Chaganti, R.S.K. Prenatal detection of the Fanconi anemia gene by cytogenetic methods Am J Hum Genet 1979 31 77
47. Aym6, S.; Mattei, J.F.; Mattei, M.G.; Aurran, Y.; Giraud, F. Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects Hum Genet 1976 10.1007/BF00296144 31 161
48. Dutrillaux, B.; Couturier, J.; Viegas-P'equignot, E.; Schaison, G. Localization ofchromatid breaks in Fanconi's anemia, using three consecutive stains Hum Genet 1977 10.1007/BF00293773 37 65
49. H, Von Koskull; P, Aula Distribution of chromosome breaks in measles, Fanconi's anemia, and controls Hereditas 1977 87 1
50. H, Von Koskull; P, Aula Non-random distribution of chromosome breaks in Fanconi's anaemia Cytogenet Cell Genet 1973 10.1159/000130485 12 423
51. Nathanson, S.D.; van Biljon, S.M.; Kallmeyer, J. Constitutional aplastic anemia (Fanconi type): case presentation and review of the literature S Afr Med J 1968 42 1159
52. Altay, C.; Sevgi, Y.; Letter, Pirnar T. Fanconi's anemia in offspring of patient with congenital radial and carpal hypoplasia N Engl J Med 1975 10.1056/NEJM197507172930316 293 151
53. Estren, S.; Dameshek, W. Familial hypoplastic anemia of childhood Report of 8 cases in; Am J Dis Child; families with beneficial effect of splenectomy in one case 1947 73 671