Bray Jonathan James Hyett, Crosswell Sebastien, Brown Rick
Trauma and Orthopaedic Department, Cheltenham General Hospital, Cheltenham, UK.
Bristol Royal Infirmary, University of Bristol Academy, Bristol, UK.
BMJ Case Rep. 2017 May 5;2017:bcr-2017-219786. doi: 10.1136/bcr-2017-219786.
Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet. At 19 months, she failed to achieve developmental milestones and examinations revealed abnormal lower limb reflexes. A full body MRI was performed which identified the sacral agenesis. We advocate early MRI of the spine to screen for spinal defects when presented with resistant foot deformities, especially when bilateral.
骶骨发育不全是一种罕见的先天性缺陷，与足部畸形有关，如先天性马蹄内翻足（CTEV），较少见的还有先天性垂直距骨（CVT）。我们报告一名3岁的白种女孩，她因骶骨发育不全出生时患有右侧CTEV和左侧CVT。她的右脚在2周时采用Ponseti石膏固定法治疗，4个月时进行跟腱切断术。左脚最初采用夜间背屈夹板治疗。双脚均对治疗有抵抗，10个月时接受了开放性足部手术，术后双足呈平足，后足中立。19个月时，她未达到发育里程碑，检查发现下肢反射异常。进行了全身MRI检查，发现了骶骨发育不全。我们主张，当出现难治性足部畸形，尤其是双侧畸形时，应尽早进行脊柱MRI检查以筛查脊柱缺陷。
