The paper presents a rare case of Pfeiffer syndrome and Jackson-Weiss syndrome in an almost three-year-old boy with deformities of the facial skeleton due to craniosynostosis started in the early foetal period and leading to, among others, malocclusions.

Aim

The paper aimed to assess possibilities to use orthognathic procedures in this case and to present a general discussion regarding problems associated with a clinical diagnosis of Pfeiffer syndrome and Jackson-Weiss syndrome taking data on genetic mutations into account.

Case report

An almost three-year-old male patient diagnosed with Pfeiffer syndrome and Jackson-Weiss syndrome was referred for an orthodontic consultation at the Department of Orthodontics, WUM by a paediatric centre.

Results

We assessed problems related to possible orthodontic management taking into account a possibility to use distraction osteogenesis, and this therapeutic option was suggested in this case. We emphasised that clinical diagnoses often fail, compared to diagnoses based on confirmed genetic mutations in relation to syndromes, including craniosynostosis.

Conclusions

From the point of view of orthodontics, the process of craniosynostosis and its consequences are essential, and a diagnosis of a specific abnormality is less significant. Minor patients may vehemently refuse any cooperation with an orthodontist, and then the use of distraction osteogenesis performed in an experienced clinical centre should be considered.