Cole-Carpenter Syndrome is a rare variant of osteogenesis imperfecta characterised by features of both osteogenesis imperfecta and craniosynostosis. Since the initial two cases reported in 1987, there have been only a handful of reports of the condition, none of which have displayed features identical to the initial cases.
We report a case of Cole-Carpenter syndrome with physical and radiological features remarkably similar to the original two cases. The female infant was noted at delivery to have short limbs, brachycephaly and unusual dysmorphic features. A skeletal survey showed generalised osteopenia with shortened and bowed long bones and moderate metaphyseal irregularity. The ribs were short and flared, with a single fracture noted. Skull X-ray showed multiple wormian bones.
At follow-up the infant exhibits startling growth failure and progression of dysmorphic features with marked turricephaly. She has significant gross motor delay but normal fine motor and social development. CT scan shows craniosynostosis involving the sagittal, lambdoid, coronal and metopic sutures. Pathological fractures of the bones on either side of the fused sagittal suture are allowing the skull to grow vertically, accounting for the turricephalic appearance. By the age of 14 months the child has experienced two long bone fractures, both with minor trauma.
We present the physical and radiological features of this case and review other reported cases of Cole-Carpenter syndrome.
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Amor, D., Bankier, A. Cole-Carpenter Syndrome - A case report. Genet Med 1, 52 (1999). https://doi.org/10.1097/00125817-199901000-00043