Craniosynostosis With Ectopia Lentis

Pesme et al. (1950) and Reichel et al. (1992) described sporadic cases of bilateral ectopia lentis associated with craniosynostosis. Cruysberg et al. (1999) observed the combination in twin sisters. Molecular studies yielded a probability of monozygosity of more than 0.98. Surgical correction of the craniosynostosis was performed in one sister at the age of 14 months and in the other at the age of 23 months.

Quercia and Teebi (2002) reported female first cousins once removed who were both born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence was normal. Quercia and Teebi (2002) suggested that inheritance is probably autosomal dominant with variable expression and incomplete penetrance. They concluded that the syndrome includes congenital heart defects.

Guven et al. (2005) observed a 6-year-old Turkish individual with craniosynostosis and ectopia lentis whose parents were second cousins. Synostosis of the right parietal and temporoparietal sutures resulted in craniofacial asymmetry. Ectopia lentis was bilateral.