Neonatal multiple hyperplastic oral frenulae and bilobulated tongue

We describe a newborn female who presented at birth multiple hyperplastic oral frenula, bilobulated tongue with hamartoma, notched upper lip, hypoplasia of the alae nasi, clinodactily. These abnormalities in a newborn female led us to make a diagnosis of OFD1, an X-linked dominant syndrome. Molecular analysis showed the deletion of one base in exon 16 of the gene OFD1. Given the phenotypic variability and high percentage of "de novo" mutations, the presence of maternal mutations has to be studied in order to provide the parents with the appropriate genetic information.