Fanconi’s anaemia (FA) is a rare, life threatening inherited syndrome. Patients usually present late in the first decade of life with aplastic anaemia or acute myeloid leukaemia. FA children are also at high risk of solid organ tumours, anogenital squamous cancers, and endocrinopathies.
These patients can present with unilateral radial abnormalities including thumb duplication. Hand surgeons can help achieve early diagnosis and improved survival in this group by early referral for screening.
In a retrospective study of 202 children with radial ray anomalies seen over a 20 year period seven children had FA. Of these seven with FA, four had bilateral thumb hypoplasia and three had unilateral thumb anomalies – two unilateral thumb hypoplasias and one thumb duplication. The three children with unilateral anomalies were diagnosed late, presenting with bone marrow failure. All three have subsequently died following late bone marrow transplants.
This study highlights the link between unilateral radial anomalies, including thumb duplication and FA and the importance of early genetic referral for diagnosis and surveillance.
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- Fanconi anaemia.J Med Genet. 2003; 40: 1-10
- The results of surgery for polydactyly of the thumb.Clin Orthop Relat Res. 1969; 64: 175-193
- Long-term review of the surgical treatment of radial deficiencies.J Hand Surg. 1987; 12A: 169-179
- Numerical variations.in: Blauth W. Schneider-Sickert F. Congenital deformities of the hand: an atlas of their surgical treatment. Springer-Verlag, Berlin1981: 120-121
- Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing.J Hand Surg. 2011; 36: 1052-1057
- Diagnosis, genetics, and management of inherited bone marrow failure syndromes.Hematology. 2007; 12: 29-39
- Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia.Blood. 2007; 109: 2256-2262
- Preimplantation diagnosis for Fanconi anemia combined with HLA matching.JAMA. 2001; 285: 3130-3133
- Cancer incidence in persons with Fanconi anemia.Blood. 2003; 101: 822-826
- Cancer in Fanconi anemia, 1927–2001.Cancer. 2003; 97: 425-440
- The genetics of Fanconi’s anaemia.Baillieres Best Pract Res Clin Haematol. 2000; 13: 407-425
- Arm anomalies and bone marrow failure may go hand in hand.J Hand Surg. 1992; 17: 566-571
Wilks DJ, Bourke GB, Kay SPJ. Fanconi’s anaemia: A role for the children’s hand surgeon. The 8th world symposium on congenital malformations of the hand and upper limb, Hamburg, Germany; September 2009.
Published online: March 02, 2012
Accepted: February 4, 2012
Received: July 25, 2011
☆This work was presented at the 8th World Symposium on Congenital Malformations of the Hand and Upper Limb 2009 and BAPRAS summer meeting 2009.
© 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.