SNP array analysis performed on the proband’s DNA did not identify any pathogenic CNV(s) within either of the two co-segregating candidate regions (chr17 and chr19), but revealed a heterozygous ∼645 kb duplication of chr1 downstream of the PRRX1 gene (Figure S1), a known developmental disease gene involved in the agnathia-otocephaly syndrome (MIM 202650) and craniosynostosis.20 The gene discussed is PRRX1; the disease is craniosynostosis.