Division of Orthopedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON (Dr. Smit); Faculty of Medicine, University of British Columbia, Vancouver, BC (Ms. So); and Department of Orthopaedics, BC Children's Hospital, Vancouver, BC (Dr. Schaeffer, Dr. Armstrong, Dr. Verchere, and Dr. Mulpuri).
J Am Acad Orthop Surg Glob Res Rev. 2020 Jun 15;4(6). doi: 10.5435/JAAOSGlobal-D-20-00059. eCollection 2020 Jun.
Human disorganization syndrome (HDS) is an extremely rare congenital syndrome characterized by a seemingly random distribution of multiple developmental anomalies involving all three germinal layers.
We report a rare case of a female child whose congenital anomalies are consistent with HDS. The orthopaedic features of this patient include a popliteus pterygium with an associated flexion contracture secondary to an elongated biceps femoris tendon that attached to the gastrocnemius-soleus muscle complex, two finger-like appendages, a tethered cord, a lipomeningomyelocele at the level of L5, and a leglength discrepancy. The patient was treated with a splinting program, release of the biceps femoris tendon at its erroneous insertion from the gastrocs-soleus, and surgical excision of the finger-like appendages. She underwent three subsequent soft-tissue releases to address recurrence of the knee flexion contracture and an anteromedial and lateral distal femoral eight plate procedure for guided growth and slow correction of the remaining flexion deformity.
The treatment of HDS can be quite complex and can present with a variety of anomalies with distinctive orthopaedic features correctable with surgical management, including soft-tissue releases, excision of appendages, and growth modulation.
人类组织解离综合征（HDS）是一种极其罕见的先天性综合征，其特征为涉及所有 3 个胚层的多种发育异常呈随机分布。
我们报告了一例女性患儿，其先天性异常符合 HDS。该患者的骨科特征包括腘绳肌延长导致比目鱼肌肌腱错误附着于腓肠肌-跟腱复合体引起的腓肠肌假性翼状赘皮伴继发的屈曲挛缩、两个类似手指的附属物、脊髓栓系、腰骶部的脂肪脊膜脊髓膨出以及肢体长度差异。该患者接受了支具治疗、比目鱼肌肌腱在错误附着处的松解以及类似手指的附属物的手术切除。她随后接受了 3 次软组织松解术以解决膝关节屈曲挛缩的复发问题，并进行了前内侧和外侧股骨远端 8 字钢板手术以进行生长引导和缓慢矫正剩余的屈曲畸形。
HDS 的治疗可能非常复杂，可能表现出多种具有独特骨科特征的异常，可通过手术治疗进行矫正，包括软组织松解、附属物切除和生长调节。
