De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case.

The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.