New case of Cole-Carpenter syndrome

We describe a girl with a severe progressive type of osteogenesis imperfect a, in association with multisutural craniosynostosis, growth failure, and c raniofacial findings including ocular proptosis, marked frontal bossing, mi dface hypoplasia, and micrognathia, Collagen analysis was normal. These fea tures are consistent with the diagnosis of Cole-Carpenter syndrome, This re port provides further evidence for the existence of this rare genetic entit y. Am. J. Med, Genet, 92:273-277, 2000. (C) 2000 Wiley-Liss, Inc.