A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

摘要

Syndromic craniosynostosis is associated with various manifestations primarily involving osseous defects and neurological impairment. Up to 180 distinct syndromes have been associated with craniosynostosis and the identification of underlying genetic defects is continually improving [Kimonis et al., 2007]. Mutations in genes of the FGFR family are most common and account for various clinical conditions [ Arlt, 2007; Wilkie et al., 2007], while other well-characterized mutations involving TWIST 1 [El Ghouzzi et al., 1997], RAB23 [Jenkins et al., 2007], EFNB1 [Wieland et al., 2004], or MSX2 genes [Jabs et al., 1993] have been described.