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Images in paediatrics
Macrocephaly and palmoplantar pitting
  1. Ingrid Rabach1,
  2. Simona Salis1,
  3. Irene Bruno2,
  4. Alessandro Ventura1,2
  1. 1University of Trieste, Trieste, Italy
  2. 2Department of Pediatrics, Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, Trieste, Italy
  1. Correspondence to Dr Ingrid Rabach, Institute for Maternal and Child Health IRCCS “Burlo Garofolo,” Via dell'Istria 65/1, Trieste 34137, Italy; ingridrabach{at}

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A 4-year-old boy presented with macrocephaly, hypertelorism and broad forehead (figure 1). His 2-year-old sister and their mother also presented with macrocephaly without developmental delay. The mother had a history of numerous basal skin carcinomas from the age of 20 years and of odontogenic keratocysts since she was a child. All three showed palmoplantar pitting after …

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  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

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