TY - JOUR
TI - De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and
hypodontia
AU - Papagrigorakis, MJ
AU - Synodinos, PN
AU - Daliouris, CP
AU - Metaxotou, C
JO - European Journal of Pediatrics
PY - 2003
VL - 162
TODO - 9
SP - 594-597
PB - Springer-Verlag
SN - 0340-6199, 1432-1076
TODO - 10.1007/s00431-003-1262-3
TODO - chromosome 2 inversion; Klippel-Feil anomaly; hypodontia
TODO - 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. Conclusion: The
current report of a patient with oligodontia and an inversion on
chromosome 2 may aid in the identification of novel genes for
oligodontia.
ER -