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. 1982 Dec;19(6):412–416. doi: 10.1136/jmg.19.6.412

Spectrum of anomalies in Fanconi anaemia.

A Glanz, F C Fraser
PMCID: PMC1048952  PMID: 7154038

Abstract

The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia, and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.

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Selected References

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  1. Ahuja B. K., Jain A. M., Sethi A. S. Fanconi's anemia. Report of 3 cases. Indian J Pediatr. 1969 Aug;36(259):284–290. doi: 10.1007/BF02756334. [DOI] [PubMed] [Google Scholar]
  2. Altay C., Sevgi Y., Pirnar T. Letter: Fanconi's anemia in offspring of patient with congenital radial and carpal hypoplasia. N Engl J Med. 1975 Jul 17;293(3):151–152. [PubMed] [Google Scholar]
  3. Auerbach A. D., Warburton D., Bloom A. D., Chaganti R. S. Preliminary communication: prenatal detection of the Fanconi Anemia gene by cytogenetic methods. Am J Hum Genet. 1979 Jan;31(1):77–81. [PMC free article] [PubMed] [Google Scholar]
  4. Aymé 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 Feb 29;31(2):161–175. doi: 10.1007/BF00296144. [DOI] [PubMed] [Google Scholar]
  5. Bargman G. J., Shahidi N. T., Gilbert E. F., Opitz J. M. Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome. Eur J Pediatr. 1977 Jul 1;125(3):163–168. doi: 10.1007/BF00480592. [DOI] [PubMed] [Google Scholar]
  6. Berger R., Bussel A., Schenmetzler C. Anomalies chromosomiques et anémie de Fanconi. Etude de 4 cas. Nouv Rev Fr Hematol. 1975 Sep-Oct;15(5):539–550. [PubMed] [Google Scholar]
  7. Berger R., Bussel A., Schenmetzler C. Somatic segregation and Fanconi anemia. Clin Genet. 1977 Jun;11(6):409–412. doi: 10.1111/j.1399-0004.1977.tb01336.x. [DOI] [PubMed] [Google Scholar]
  8. Bloom G. E. Disorders of bone marrow production. Pediatr Clin North Am. 1972 Nov;19(4):983–1008. doi: 10.1016/s0031-3955(16)32778-x. [DOI] [PubMed] [Google Scholar]
  9. Bushkell L. L., Kersey J. H., Cervenka J. Chromosomal breaks in T and B lymphocytes in Fanconi's anemia. Clin Genet. 1976 Jun;9(6):583–587. doi: 10.1111/j.1399-0004.1976.tb01616.x. [DOI] [PubMed] [Google Scholar]
  10. CASSIMOS C., ZANNOS L. Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome). AMA Am J Dis Child. 1952 Sep;84(3):347–350. doi: 10.1001/archpedi.1952.02050030073008. [DOI] [PubMed] [Google Scholar]
  11. CHAPPELL B. S. Transposition of external genitalia in a case with Fanconi type deformity. J Urol. 1958 Jan;79(1):115–118. doi: 10.1016/S0022-5347(17)66243-8. [DOI] [PubMed] [Google Scholar]
  12. COWDELL R. H., PHIZACKERLEY P. J., PYKE D. A. Constitutional anemia (Fanconi's syndrome) and leukemia in two brothers. Blood. 1955 Aug;10(8):788–801. [PubMed] [Google Scholar]
  13. CRISALLI M., SANSONE G. Constitutional infantile panmyelopathy with multiple malformations Fanconi anemia. Helv Paediatr Acta. 1952 Jun;7(3):299–308. [PubMed] [Google Scholar]
  14. DAWSON J. P. Congenital pancytopenia associated with multiple congenital anomalies (Fanconi type); review of the literature and report of a twenty-year-old female with a ten-year follow-up and apparently good response to splenectomy. Pediatrics. 1955 Mar;15(3):325–333. [PubMed] [Google Scholar]
  15. DELAGE J. M. Pancytopénie familiale. Laval Med. 1956 Mar;21(3):334–350. [PubMed] [Google Scholar]
  16. Dutrillaux B., Couturier J., Viegas-Péquignot E., Schaison G. Localization chromatid breaks in Fanconi's anemia, using three consecutive stains. Hum Genet. 1977 Jun 10;37(1):65–71. doi: 10.1007/BF00293773. [DOI] [PubMed] [Google Scholar]
  17. Esparza A., Thompson W. R. Familial hypoplastic anemia with multiple congenital anomalies (Fanconi's syndrome)--report of three cases. Cases presented are of two sisters and a female cousin with complete clinical and post mortem findings. R I Med J. 1966 Feb;49(2):103–110. [PubMed] [Google Scholar]
  18. FRANCIS R. C., MOIR R. A., SWIFT P. N. The value of splenectomy in Fanconi's anaemia. Arch Dis Child. 1955 Oct;30(153):439–444. doi: 10.1136/adc.30.153.439. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. GRISLAIN J. R., LEMOINE P., MARTOUZET Nanisme type Fanconi avec myélose aplasique terminale. Arch Fr Pediatr. 1957;14(4):415–422. [PubMed] [Google Scholar]
  20. HIGASHI O., KOSEKI E., HIGUCHI M. A case of Fanconi's syndrome with a study of peroxidase activity of the erythron. Arch Dis Child. 1953 Oct;28(141):359–362. doi: 10.1136/adc.28.141.359. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Hayashi K., Schmid W. The rate of sister chromatid exchanges parallel to spontaneous chromosome breakage in Fanconi's anemia and to trenimon-induced aberrations in human lymphocytes and fibroblasts. Humangenetik. 1975 Sep 23;29(3):201–206. doi: 10.1007/BF00297624. [DOI] [PubMed] [Google Scholar]
  22. Hill R. D. Familial cancer on a Scottish island. Br Med J. 1976 Aug 14;2(6032):401–402. doi: 10.1136/bmj.2.6032.401. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Hirschman R. J., Shulman N. R., Abuelo J. G., Whang-Peng J. Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features. Ann Intern Med. 1969 Jul;71(1):107–117. doi: 10.7326/0003-4819-71-1-107. [DOI] [PubMed] [Google Scholar]
  24. Jones R. Letter: Fanconi anemia: simultaneous onset of symptoms in two siblings. J Pediatr. 1976 Jan;88(1):152–152. doi: 10.1016/s0022-3476(76)80751-2. [DOI] [PubMed] [Google Scholar]
  25. Juhl J. H., Wesenberg R. L., Gwinn J. L. Roentgenographic findings in Fanconi's anemia. Radiology. 1967 Oct;89(4):646–653. doi: 10.1148/89.4.646. [DOI] [PubMed] [Google Scholar]
  26. KUNZ H. W. Hypoplastic anemia with multiple congenital defects (Fanconi syndrome). Pediatrics. 1952 Sep;10(3):286–292. [PubMed] [Google Scholar]
  27. LEVY W. Aplastic anemia in siblings with multiple congenital anomalies (the Fanconi type). J Pediatr. 1952 Jan;40(1):24–41. doi: 10.1016/s0022-3476(52)80231-8. [DOI] [PubMed] [Google Scholar]
  28. LYNCH M. J., SHERMAN L., ELLIOTT F. G. Fanconi's anaemia (aplastic anaemia with congenital abnormalities). Can Med Assoc J. 1954 Sep;71(3):273–276. [PMC free article] [PubMed] [Google Scholar]
  29. MCCABE M. E., LANGE R. D., CROSBY 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 Aug;23(2):329–332. doi: 10.1016/0002-9343(57)90204-8. [DOI] [PubMed] [Google Scholar]
  30. McALPINE S. G. [Familial hypoplastic anaemia with congenital abnormalities (Fanconi's syndrome): report of a case]. Glasgow Med J. 1954 Feb;35(2):46–50. [PMC free article] [PubMed] [Google Scholar]
  31. McDonough E. R. Fanconi anemia syndrome. Arch Otolaryngol. 1970 Sep;92(3):284–285. doi: 10.1001/archotol.1970.04310030074017. [DOI] [PubMed] [Google Scholar]
  32. 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 Med J. 1975 Aug;52(8):462–466. [PubMed] [Google Scholar]
  33. Minagi H., Steinbach H. L. Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):100–109. doi: 10.2214/ajr.97.1.100. [DOI] [PubMed] [Google Scholar]
  34. NILSSON L. R. Chronic pancytopenia with multiple congenital abnormalities (Fanconi's anaemia). Acta Paediatr. 1960 Jul;49:518–529. doi: 10.1111/j.1651-2227.1960.tb07767.x. [DOI] [PubMed] [Google Scholar]
  35. Nathanson S. D., van Biljon S. M., Kallemeyer J. Constitutional aplastic anaemia (Fanconi type): case presentation and review of the literature. S Afr Med J. 1968 Nov 9;42(43):1159–1161. [PubMed] [Google Scholar]
  36. Opitz J. M., Herrmann J., Pettersen J. C., Bersu E. T., Colacino S. C. Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man. Adv Hum Genet. 1979;9:71–164. doi: 10.1007/978-1-4615-8276-2_2. [DOI] [PubMed] [Google Scholar]
  37. Pedersen F. K., Hertz H., Lundsteen C., Platz P., Thomsen M. Indication of primary immune deficiency in Fanconi's anemia. Acta Paediatr Scand. 1977 Nov;66(6):745–751. doi: 10.1111/j.1651-2227.1977.tb07983.x. [DOI] [PubMed] [Google Scholar]
  38. Perkins J., Timson J., Emery A. E. Clinical and chromosome studies in Fanconi's aplastic anaemia. J Med Genet. 1969 Mar;6(1):28–33. doi: 10.1136/jmg.6.1.28. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Pochedly C., Collipp P. J., Wolman S. R., Suwansirikul S., Rezvani I. Fanconi's anemia with growth hormone deficiency. J Pediatr. 1971 Jul;79(1):93–96. doi: 10.1016/s0022-3476(71)80064-1. [DOI] [PubMed] [Google Scholar]
  40. Preus M. The numerical versus intuitive approach to syndrome nosology. Birth Defects Orig Artic Ser. 1980;16(5):93–104. [PubMed] [Google Scholar]
  41. Prindull G., Stubbe P., Kratzer W. Fanconi's anemia. I. Case histories, clinical and laboratory findings in six affected siblings. Z Kinderheilkd. 1975 Jul 1;120(1):37–49. [PubMed] [Google Scholar]
  42. SILVER H. K., BLAIR W. C., KEMPE C. H. Fanconi syndrome; multiple congenital anomalies with hypoplastic anemia. AMA Am J Dis Child. 1952 Jan;83(1):14–25. [PubMed] [Google Scholar]
  43. Schroeder T. M., Tilgen D., Krüger J., Vogel F. Formal genetics of Fanconi's anemia. Hum Genet. 1976 Jun 29;32(3):257–288. doi: 10.1007/BF00295817. [DOI] [PubMed] [Google Scholar]
  44. Skikne B. S., Lynch S. R., Bezwoda W. R., Bothwell T. H., Bernstein R., Katz J., Kramer S., Zucker M. Fanconi's anaemia, with special reference to erythrokinetic features. S Afr Med J. 1978 Jan 14;53(2):43–50. [PubMed] [Google Scholar]
  45. Swift M., Zimmerman D., McDonough E. R. Squamous cell carcinomas in Fanconi's anemia. JAMA. 1971 Apr 12;216(2):325–326. [PubMed] [Google Scholar]
  46. VAN BUCHEM F. S., SAMSOM N., NIEWEG H. O. Familial pancytopenia with congenital abnormalities (Fanconi syndrome). Acta Med Scand. 1954;149(1):19–29. doi: 10.1111/j.0954-6820.1954.tb11408.x. [DOI] [PubMed] [Google Scholar]
  47. Von Koskull H., Aula P. Nonrandom distribution of chromosome breaks in Fanconi's anemia. Cytogenet Cell Genet. 1973;12(6):423–434. doi: 10.1159/000130485. [DOI] [PubMed] [Google Scholar]
  48. von Koskull H., Aula P. Distribution of chromosome breaks in measles, Fanconi's anemia and controls. Hereditas. 1977;87(1):1–10. doi: 10.1111/j.1601-5223.1977.tb01238.x. [DOI] [PubMed] [Google Scholar]

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