This case was evaluated by an extra-institutional medical geneticist and according to the EMR was concluded as not associated with a hereditary PGL/PCC syndrome; however, considering the high suspicion of a hereditary PGL/PPC and the elevated prevalence of exon 1 deletion in the SDHB gene documented in our study, it is necessary to complement the genetic studies in this patient with MLPA. Here, SDHB is linked to microcephaly 1, primary, autosomal recessive.