Summary
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.
Keywords
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Article info
Publication history
Published online: March 02, 2012
Accepted:
February 4,
2012
Received:
July 25,
2011
Footnotes
☆This work was presented at the 8th World Symposium on Congenital Malformations of the Hand and Upper Limb 2009 and BAPRAS summer meeting 2009.
Identification
Copyright
© 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.
