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.

About the authors

Marat S. Asadulaev

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Author for correspondence.
Email: marat.asadulaev@yandex.ru
ORCID iD: 0000-0002-1768-2402
SPIN-code: 3336-8996

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg

Sergei V. Vissarionov

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: vissarionovs@gmail.com
ORCID iD: 0000-0003-4235-5048
SPIN-code: 7125-4930

MD, Dr. Sci. (Medicine), Professor, Corresponding Member of RAS

Russian Federation, Saint Petersburg

Polina A. Pershina

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: polinaiva2772@gmail.com
ORCID iD: 0000-0001-5665-3009
SPIN-code: 2484-9463

MD

Russian Federation, Saint Petersburg

Denis B. Malamashin

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: malamashin@mail.ru
ORCID iD: 0000-0002-7356-6860
SPIN-code: 9650-6020

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg

Vakhtang G. Toria

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: vakdiss@yandex.ru
ORCID iD: 0000-0002-2056-9726
SPIN-code: 1797-5031

MD

Russian Federation, Saint Petersburg

Dmitriy N. Kokushin

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: partgerm@yandex.ru
ORCID iD: 0000-0002-2510-7213
SPIN-code: 9071-4853

MD, Dr. Sci. (Medicine)

Russian Federation, Saint Petersburg

Timofey S. Rybinskikh

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: timofey1999r@gmail.com
ORCID iD: 0000-0002-4180-5353
SPIN-code: 7739-4321

MD

Russian Federation, Saint Petersburg

Sergei M. Belyanchikov

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: beljanchikov@list.ru
ORCID iD: 0000-0002-7464-1244
SPIN-code: 9953-5500

MD, Cand. Sci. (Medicine)

Russian Federation, Saint Petersburg

Tatiana V. Murashko

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: popova332@mail.ru
ORCID iD: 0000-0002-0596-3741
SPIN-code: 9295-6453

MD

Russian Federation, Saint Petersburg

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2. Fig. 1. Panoramic X-ray tomography of the skeleton — spine, pelvis, femurs in the frontal (a) and lateral (b) projections. X-ray image of a congenital malformation of the spine due to malformation of the vertebrae. A localized left-sided kyphoscoliotic deformity of the spine was formed at the level of the thoracolumbar junction. The left-sided scoliotic curve ThX–LI is 85°, and the local kyphotic deformity at the ThIX–LI level is 85°.

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3. Fig. 2. 3D reconstruction based on multislice computed tomography data: a — posterior view; b — anterior view; c — oblique projection. A congenital malformation of the spine is determined due to malformation of the vertebrae. Hypoplasia of the left half of the ThIX body, hypoplasia of the right half of the ThXI and ThXII bodies. Due to malosification of the vertebrae, a local left-sided kyphoscoliotic deformity of the spine has developed at the thoracolumbar junction. Left-sided scoliotic curve ThX–LI, local kyphotic deformity at the ThIX–LI level. The spinal canal is free of inclusions of pathological densitometric density.

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4. Fig. 3. Multislice computed tomography in MPR (multiplanar reconstruction) mode revealed a lack of bony fusion of the vertebral arches with the bodies along ThVIII–LI bilaterally: a, b, c — visualization of the ThVIII arch root on the right; d, e, f — visualization of the ThVIII arch root on the left.

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5. Fig. 4. Preoperative planning based on multislice computed tomography data of the thoracic and lumbar spine using the Stryker navigation station: a — planning of the reference points of the LI vertebra; b — multiplanar reconstruction mode, posterior view, position of the planned supporting elements; c — multiplanar reconstruction mode, position and trajectory of the planned supporting elements, lateral view. Colored markers — trajectory of the bone canals for subsequent implantation of the supporting elements of the multi-support metal structure.

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6. Fig. 5. Magnetic resonance imaging data of the spine: a — axial section at the SII level; b — sagittal section. The spinal cord cone is at the level of the LII–LIII intervertebral disc. At the SII–SV level, the structure of the terminal thread with an increased signal in T1WI, characteristic of adipose tissue (terminal thread lipoma).

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7. Fig. 6. External appearance of the surgical wound after the completed stage of correction and stabilization of the spinal deformity: 1 — cranial part of the wound; 2 — supporting elements of the metal structure; 3 — titanium rod, curved in accordance with the physiological curves of the spine, diameter 3.5 mm; 4 — apex of the deformity. 5 — full-thickness musculocutaneous flap for subsequent coverage of the metal structure during postoperative wound suturing; 6 — caudal wound section.

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8. Fig. 7. Spondylograms of the thoracic and lumbar spine in the frontal (a) and lateral (b) projections under static loading demonstrate: in the frontal plane, the axis of the thoracic and lumbar spine is curved — a right-sided Th5–XI curve of 14° according to the Cobb scale. Local kyphotic deformity at the Th9–LI level is 16° according to the Cobb scale. A multi-support metal structure with a rod diameter of 3.5 mm is installed at the level of the Th7–LII vertebrae. The pelvic ring bones are tilted to the left, with multiplanar (valgus-torsion) deformity of the proximal left femur.

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9. Fig. 8. Control study of multispiral computed tomography, multiplanar reconstruction mode, position of the supporting elements at the level of the Th8th vertebra: a, b, c — left side; d, e, f — right side.

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10. Fig. 9. Radiographs taken before (a) and after (b) surgery demonstrate normalization of global and regional sagittal balance parameters. SVA (sacral vertical axis) before surgery was 44 mm, after – 31 mm.

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11. Fig. 10. Patient's appearance after surgery – notable is reconstruction of the torso shape with improved sagittal, frontal, and torsional balance: a – posterior view; b – anterior view; c – lateral view.

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