Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers ...

s in Hungarian language 1) Pfeiffer P., Hermán R., Pedryc A., Hegedűs A. (2009): RNS-kivonás optimalizálásakülönböző érettségű kajszi, őszibarack és meggy gyümölcsökből. XV. NövénynemesítésiTudományos Napok, 2009. március 17., Összefoglalók (Szerk.: Veisz, O.), MTA,Budapest, p. 118. 2) Hegedűs A., Pfeiffer P., Pedryc A., György Zs., Halász J. (2009): A kajszigyümölcsflavonoid-bi...

The Jahn-Teller (JT) theorem states that in a molecule with a degenerate electronic state, a structural distortion must occur that lowers the symmetry, removes the degeneracy and lowers the energy. The multideterminental-DFT method performed to calculate the JT parameters for JT active molecules is described. Within the harmonic approximation the JT distortion can be analyzed as a linear combin...

Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened...

Purpose We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the u...