Unique oral finding in a patient with Pitt-Hopkins Syndrome

Abstract

Background

Pitt-Hopkins Syndrome (PTHS) is a rare syndrome caused by heterozygous hypomorphic or null mutation or deletion of transcription factor 4. Characteristic findings have been reported in the mouth and lips, but no studies have investigated the specific size of the teeth or dental arches.

Case presentation

We report a case of an 8-year-old girl diagnosed with PTHS at our hospital. Model analysis of the second molar eruption revealed that the central incisor and dental arch were larger than average for Japanese females.

Conclusion

PTHS patients have wider anterior teeth and dental arches, which may lead to craniofacial anomalies.