Morphometric analysis of untreated adult skulls in syndromic and nonsyndromic craniosynostosis.

ABSTRACT

The aim of this study was to perform a morphometric analysis of untreated adult skulls displaying syndromic and nonsyndromic craniosynostosis. We analyzed, in detail, 42 adult craniosynostoses (18 scaphocephaly, 11 anterior plagiocephaly, 2 trigonocephaly, 9 oxycephaly, and 2 brachycephaly) from archeological (three skulls) and pathoanatomical samples (39 skulls). The univariate and bivariate measurements from the pathological skulls were compared with 40 anatomical skulls with normal cranial vault morphology. Bony signs of chronic elevated intracranial pressure (ICP) are (1) diffuse beaten copper pattern, (2) dorsum sellae erosion, (3) suture diastasis, and (4) abnormalities of venous drainage that particularly affect the sigmoid-jugular sinus complex. The mean cranial length was significantly greater in scaphocephaly than in anatomical skulls (20.3 vs 18.0 cm), and the sagittal suture was also longer (14.3 vs 11.8 cm). There were three types of suture course in the bregma region in scaphocephaly anterior spur (28%), normal configuration (61%), and posterior spur (11%). The plagiocephaly measurements showed nonsignificant differences, and there was no correlation between the length of the anterior and middle skull base (ipsilateral anterior-posterior shortening of the skull) and incomplete or complete suture synostosis. Bony signs of chronic elevated ICP were found in 82% of cases of oxycephaly and brachycephaly. In three such cases of oxycephaly, we found a marked (1.8-2.1 cm) elevation of bregma region. One skull (Saethre-Chotzen syndrome) yielded human DNA sufficient for polymerase chain reaction (PCR)-based amplification procedures. Mutation analyses in the FGFR3 gene revealed nucleotide alterations located in the mutational hot spot at amino acid residue 250 (g.C749). The mean cranial length in adult scaphocephaly was 12% greater than anatomical skulls. A unilateral complete or incomplete coronal synostosis can be found with or without plagiocephalic deformation. Elevation of the bregma region is a bony sign of chronic elevated ICP. These data on adult craniosynostosis could be of interest for physicians dealing with craniosynostotic children.