Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course.


Costello syndrome (CS) is a rare genetic condition caused by a heterozygous mutation in the HRAS gene, with an estimated prevalence of 1: 300 000. Individuals with CS present with characteristic features including scoliosis, kyphosis, Chiari 1 malformation, and syringomyelia. The natural history of the spinal deformity associated with CS has been incompletely described. This case series describes the spinal deformity associated with CS and sets out a strategy for screening and treatment. The clinical records and spinal radiographs of nine consecutive CS patients encountered at a single centre were reviewed. Radiological assessments for the presence and progression of scoliosis were studied. Nine patients with confirmed CS were followed for a mean of 6.6 years. Five patients showed mild scoliosis. Two patients had lumbar kyphosis in addition to their scoliosis, and one showed scoliosis with proximal thoracic kyphosis. Three patients underwent investigation with MRI, one of which showed Chiari I malformation and a syrinx. One showed no change in the severity of their deformity over time. The remaining four patients showed a rate of increasing coronal deformity of 2.1° per year. There were no cases of rapid progression. All cases showed delayed skeletal maturity. The spinal deformity in CS appears to be slowly progressive. To identify those at risk of more rapid progression, brain and spine MRI should be carried out to exclude structural neurological abnormalities. Long follow-up is required for patients with spinal deformity in CS due to the delay in reaching skeletal maturity. Evidence level: 4.





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Publication Info

Machida, Masayoshi, Brett Rocos, Katsuaki Taira, Naho Nemoto, Noboru Oikawa, Hirofumi Ohashi, Masafumi Machida, Tomonori Kinoshita, et al. (2023). Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course. Journal of pediatric orthopedics. Part B, 32(4). pp. 357–362. 10.1097/bpb.0000000000001013 Retrieved from

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Brett Rocos

Assistant Professor of Orthopaedic Surgery

I joined the team at Duke University Health from London, UK, where I was a Consultant Adult and Paediatric Spine Surgeon at Barts Health NHS Trust and Honorary Consultant Senior Lecturer at Queen Mary University of London. I completed my surgical training in in the South West of the UK and at the University of Toronto, and am fellowship trained in adult spine surgery, paediatric spine surgery, orthopaedic trauma surgery, research and healthcare management.

I am driven to support patients at every stage of their care, from clinic assessment, through surgery to discharge. Making sure that every person, adult, child, family or friend understands what’s wrong, helping them to choose the right treatment for them, and what the recovery will be like is an important priority.

My research activity focusses on finding effective new treatments for spinal disorders and bringing them to patients. Focusing on spinal deformity, I have led investigations in the UK, Canada and the USA, and I sit on the Global AO Knowledge Forum for Deformity and the Research Grants Committee at the Scoliosis Research Society. I have lectured in North America and Europe about the treatment of spine disorders for the Scoliosis Research Society, Global Spine Congress, AO Spine and Eurospine, and I have worked hard to produce research that improves the care for spine patients wherever they live. Lastly, I review for several orthopaedic journals and I am Deputy Editor of the Bone and Joint 360, a leading publication with a global readership.

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