Surgical Correction of Kyphoscoliotic Spinal Deformity in a Child With Conradi–Hünermann Syndrome: A Case Report and Review

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Abstract
BACKGROUND: Conradi–Hünermann syndrome, also called X-linked dominant chondrodysplasia punctata type 2, is a rare genetic disorder. Its prevalence ranges from 1:100,000 to 1:400,000 live births, with a 95% female predominance. In pediatric vertebrology, particular interest is drawn to kyphosis and kyphoscoliosis, which rapidly progress and lead to severe deformities. However, in Russian scientific data, only a few studies have investigated the diagnosis and treatment of this syndrome. CASE DESCRIPTION: This report presents the medical history and genetic and clinical–radiological findings of a 3-year-3-month-old child with Conradi–Hünermann syndrome. The results of surgical treatment are provided, and possible approaches for selecting surgical strategies are discussed. DISCUSSION: The development of severe spinal deformity (Cobb angle: 50°) in the frontal and sagittal planes in younger patients (aged 2–5 years) is an unfavorable prognostic factor. For such patients, prompt surgical correction of spinal deformity at an early age, along with stabilization of the achieved result using multi-anchor instrumentation, is crucial for preventing neurological deficits and the rapid progression of curvature during the child’s subsequent growth. CONCLUSION: Early clinical and genetic diagnosis is required in children with suspected Conradi–Hünermann syndrome. Monitoring of the patient’s orthopedic status allows for timely referral to a spine specialist. Treatment for progressive kyphoscoliosis should include early surgical intervention. Deformity correction and stabilization with multi-anchor instrumentation without early spinal fusion may be used, followed by staged corrections if warranted.

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