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Oesophageal atresia, VACTERL association: Fanconi’s anaemia related spectrum of anomalies
  1. Al Hasa Specialty Services Division
  2. Saudi Aramco Al Hasa Health Center
  3. Box 6030, Mubarraz 31311, Saudi Arabia
  4. email: hassibnarchi{at}

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    Editor,—The VACTERL association and Fanconi’s constitutional anaemia have in common several congenital anomalies as shown in Perel et al’s report.1 Although differentiating these two entities is usually easy, they can sometimes be confused.2 We reported in 1996 the association of Fanconi’s constitutional anaemia and VATER association.3 The pancytopenia in our patient was diagnosed at the age of 3 years, Fanconi s anaemia was confirmed by the increased chromosomal breakages with mitomycin and, as with Perelet al’s case, there was no associated hydrocephalus as described in previous reports.

    Although the association of these two entities is being described more frequently, the value of routine screening of all neonates with oesophageal atresia or VACTERL for chromosomal breakages deserves to be studied. We agree with Peel et al that a high index of suspicion for an association with Fanconi’s anaemia should be maintained in these neonates. Although surgical correction of life threatening anomalies in these infants will still be undertaken in the neonatal period, early diagnosis of associated Fanconi’s anaemia would allow early surgical correction of some skeletal or renal anomalies before the onset of pancytopenia. Genetic counselling and family education for the associated risk of bone marrow aplasia and malignancy should be undertaken, and preparations for allogenic bone marrow or umbilical cord blood transplantation can be made at an early stage.


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