Craniosynostosis is a congenital developmental disorder involving premature 
fusion of cranial sutures, which results in an abnormal shape of the skull. 
Significant progress in understanding the molecular basis of this phenotype has 
been made for a small number of syndromic craniosynostosis forms. Nevertheless, 
in the majority of the approximately 100 craniosynostosis syndromes and in 
non-syndromic craniosynostosis the underlying gene defects and pathomechanisms 
are unknown. Here we report on a male infant presenting at birth with 
brachycephaly, proptosis, midfacial hypoplasia, and low set ears. Three 
dimensional cranial computer tomography showed fusion of the lambdoid sutures 
and distal part of the sagittal suture with a gaping anterior fontanelle. 
Mutations in the genes for FGFR2 and FGFR3 were excluded. Standard chromosome 
analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The 
breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in 
skeletal growth and differentiation processes. SOX6 mutation screening of 
another 104 craniosynostosis patients revealed one missense mutation leading to 
the exchange of a highly conserved amino acid (p.D68N) in a single patient and 
his reportedly healthy mother. The breakpoint on chromosome 9 is located in a 
region without any known or predicted genes but, interestingly, disrupts patches 
of evolutionarily highly conserved non-genic sequences and may thus led to 
dysregulation of flanking genes on chromosome 9 or 11 involved in skull vault 
development. The present case is one of the very rare reports of an apparently 
balanced translocation in a patient with syndromic craniosynostosis, and reveals 
novel candidate genes for craniosynostoses and cranial suture formation.