Craniosynostosis (a premature fusion of the cranial sutures) occurs with a 
frequency of 1 in 2100-2500 births and in over 40% cases is caused by known 
genetic factors--either single gene mutations or chromosomal rearrangements. 
Cases caused by complex chromosomal abnormalities are uncommon and likely 
associated with compound phenotype. Saethre-Chotzen syndrome (SCS) [#101400] is 
caused by TWIST1 gene haploinsufficiency. Its phenotype includes uni- or 
bicoronal synostosis, short stature, facial dysmorphism and variable anomalies 
of the hands and feet. Due to its poor sonographic manifestation a prenatal 
diagnosis of SCS is challenging. We report a case of a prenatally detected 
craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de 
novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 
7p21.3-7p15.3, including TWIST1 gene.