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Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay
  1. Daniel O'Reilly1,
  2. Sharon Dempsey1,
  3. Michael Joseph O'Grady1,2 and
  4. Taha Ibrahim Yousif1
  1. 1Department of Paediatrics, Midland Regional Hospital, Mullingar, Ireland
  2. 2Women’s & Children’s Health, University College Dublin, Dublin, Ireland
  1. Correspondence to Dr Daniel O'Reilly; daniel.oreilly2{at}


We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.

Global developmental delay is a common presentation to general paediatric and community paediatric clinics. This prompts the search for an aetiology to describe the child’s constellation of symptoms which often consists of a chromosomal microarray, neuroimaging and investigations for an inborn error of metabolism. With developments in genetic testing such as the reducing cost of clinical exome sequencing or whole-exome sequencing, could these testing strategies offer a more comprehensive first line test?

This case not only demonstrates the features of cardiofaciocutaneous syndrome type 3 but the added value of modern genetic technologies in the diagnosis of children with global developmental delay.

  • Genetic screening / counselling
  • Paediatrics
  • Developmental paediatrocs

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  • Contributors DOR and SD composed the manuscript, MJO'G and TIY reviewed and edited manuscript for publication. All authors agreed on manuscript prior to submission.

  • Funding This study was funded by Wellcome Trust (203930/B/16/Z), Health research board (203930/B/16/Z)

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.