电邮这篇文章 Conradi–Hünermann综合征患儿脊柱后凸侧弯畸形的外科矫正（病例报告与文献综述）
- 作者: Asadulaev M.S.1, Vissarionov S.V.1, Pershina P.A.1, Malamashin D.B.1, Toria V.G.1, Kokushin D.N.1, Rybinskikh T.S.1, Belyanchikov S.M.1, Murashko T.V.1
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隶属关系:
- H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
- 期: 卷 13, 编号 3 (2025)
- 页面: 307-318
- 栏目: Clinical cases
- URL: https://journal-vniispk.ru/turner/article/view/349953
- DOI: https://doi.org/10.17816/PTORS689632
- EDN: https://elibrary.ru/DCHNKI
- ID: 349953
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详细
论证。Conradi–Hünermann综合征，又称X连锁显性点状软骨发育不良2型（CDPX2），是一种罕见的遗传性疾病。其患病率为每100,000–400,000名新生儿1例，女性患者占比超过95%。在儿童脊柱外科中，后凸和后凸侧弯畸形因进展迅速并导致严重畸形而具有重要临床意义。然而，在俄罗斯国内文献中，有关该综合征诊断和治疗的研究报道仍极为有限。
临床观察。本文报道了一名3岁3个月Conradi–Hünermann综合征患儿的病史、遗传学检查及临床–影像学检查资料。展示了外科治疗结果，并讨论了手术策略选择的可能途径。
讨论。在低龄患儿（2–5 岁）中，脊柱在冠状面和矢状面形成严重畸形（超过50°Cobb角），是明确的不良预后因素。对于此类患者，在幼年期及时进行脊柱畸形的外科矫正，并通过多支撑金属内固定稳定矫正结果，是必要的措施，其目的在于防止神经功能缺损的发生以及在儿童后续生长过程中畸形的迅速进展。
结论。对疑似Conradi–Hünermann综合征的儿童应尽早进行临床和遗传学诊断。应监测其骨科状态，以便及时转诊至脊柱外科专家。进展性后凸侧弯畸形的治疗应包括早期外科干预。其可行方案可以是在不进行早期脊柱融合的情况下，通过多支撑金属内固定进行畸形矫正和稳定，并在必要时于随后的生长阶段实施分期矫正。
作者简介
Marat S. Asadulaev
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
编辑信件的主要联系方式.
Email: marat.asadulaev@yandex.ru
ORCID iD: 0000-0002-1768-2402
SPIN 代码: 3336-8996
MD, Cand. Sci. (Medicine)
俄罗斯联邦, Saint PetersburgSergei 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 代码: 7125-4930
MD, Dr. Sci. (Medicine), Professor, Corresponding Member of RAS
俄罗斯联邦, Saint PetersburgPolina 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 代码: 2484-9463
MD
俄罗斯联邦, Saint PetersburgDenis 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 代码: 9650-6020
MD, Cand. Sci. (Medicine)
俄罗斯联邦, Saint PetersburgVakhtang 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 代码: 1797-5031
MD
俄罗斯联邦, Saint PetersburgDmitriy 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 代码: 9071-4853
MD, Dr. Sci. (Medicine)
俄罗斯联邦, Saint PetersburgTimofey 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 代码: 7739-4321
MD
俄罗斯联邦, Saint PetersburgSergei 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 代码: 9953-5500
MD, Cand. Sci. (Medicine)
俄罗斯联邦, Saint PetersburgTatiana 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 代码: 9295-6453
MD
俄罗斯联邦, Saint Petersburg参考
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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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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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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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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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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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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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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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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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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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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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