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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 …
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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