Passos-Bueno et al. (2002) reported a father and 2 sons with craniosynostosis and ocular and distal limb defects. The father had craniosynostosis of the coronal suture, whereas both sons had involvement of the sagittal suture. The father had ... Passos-Bueno et al. (2002) reported a father and 2 sons with craniosynostosis and ocular and distal limb defects. The father had craniosynostosis of the coronal suture, whereas both sons had involvement of the sagittal suture. The father had poor intellectual development, the younger son had motor and cognitive delays, and the elder son was developmentally normal. All 3 had ptosis, amblyopia, cataracts (congenital in the father and in 1 son), microcornea, and optic nerve alterations. Although their hands were normal, all 3 had hypoplasia/agenesis of the halluces.
Passos-Bueno et al. (2002) analyzed the candidate exons of the FGFR1 (136350), FGFR2 (176943), FGFR3 (134934), TWIST1 (601622), and MSX2 (123101) genes, mutations in which have been associated with craniosynostosis, and found no alterations.