- Pfeiffer syndromeAnnick Vogels
Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
Orphanet J Rare Dis 1:19. 2006..Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia...
- Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?Annick Vogels
Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
Ann Genet 45:1-3. 2002..We report a female with Prader-Willi syndrome and hemihypertrophy. We discuss the possibility of an undetected mosaicism for trisomy 15 explaining this unusual feature...