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Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
  1. Department of Paediatric Oncology, Emma Children Hospital AMC, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
  2. Departments of Paediatrics and Human Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

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Editor—Cardiofaciocutaneous syndrome (CFC syndrome) is a multiple congenital abnormality syndrome associated with characteristic facial appearance, congenital heart defects, ectodermal anomalies, and growth failure. The most frequent cardiac anomalies are pulmonary stenosis and atrial septal defect. The facial characteristics are high forehead, hypoplasia of the supraorbital ridges, downward slanting palpebral fissures, depressed nasal bridge, and posteriorly angulated ears with prominent helices. The often woolly hair is sparse and friable. The skin shows hyperkeratosis that can be as severe as generalised ichthyosis.1 There is an assumption that Noonan syndrome (NS) and CFC syndrome are closely linked. However, in NS there is a link with malignancies, but in CFC syndrome no descriptions of cases with a malignancy have been published.

We report a 5 year old girl of unrelated, white parents (at birth paternal age was 47 years and maternal age was 29 years) with CFC syndrome, who presented with acute lymphoblastic leukaemia (ALL).

During the pregnancy there was polyhydramnios. Delivery at 40 weeks was uncomplicated and birth weight was 3500 g. At the age of 10 months the diagnosis of CFC syndrome was made based on dysmorphic features, cardiac anomalies, and skin abnormalities. Cardiac features included an axis in the left upper quadrant, with low voltages over …

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