关键词: 2q31 DACTYLIN DLX5 DLX6 DSS P63 Split hand and foot malformation WNT10B Xq26 split hand/foot malformation with long bone deficiency

来  源:   DOI:10.13107/jocr.2023.v13.i04.3612   PDF(Pubmed)

Abstract:
UNASSIGNED: Authors report a rare case report about split hand and foot malformation (SHFM) also sometimes referred to as ectrodactyly.
UNASSIGNED: The patient with hand and foot malformations presented to casualty. A 60-year-old male was brought with alleged history of road traffic accident with tenderness and deformity in left thigh. On further physical examination, a malformation was present in bilateral feet and right hand. Plain radiographs were taken after emergency primary management which revealed a fracture of shaft of femur of the left side and absence of 2nd and 3rd phalanges in bilateral feet and lobster claw like malformation in the right hand. The patient was further investigated and operated with femur interlocking nail and later discharged under stable condition. Screening for other congenital defects was done.
UNASSIGNED: Patients with SHFM should undergo screening for other congenital anomalies. Electrocardiogram, 2D ECHO, chest radiograph, and ultrasonography abdomen should be done. Genetic analysis ideally should be done to identify mutations involved. Surgical intervention is only required when patient demands improved function of limb.
摘要:
作者报告了一个罕见的病例报告,该病例报告涉及手脚分裂畸形(SHFM),有时也被称为外翻畸形。
手脚畸形患者出现伤亡。一名60岁的男性被指控有道路交通事故史,左大腿有压痛和畸形。在进一步的体检中,双侧双脚和右手出现畸形。在紧急初级处理后进行了X线平片检查,发现左侧股骨干骨折,双侧脚没有第2和第3指骨,右手没有龙虾爪状畸形。对患者进行了进一步调查,并用股骨交锁钉进行了手术,然后在稳定的情况下出院。筛查其他先天性缺陷。
SHFM患者应接受其他先天性异常筛查。心电图,2DECHO,胸部X光片,应该做腹部超声检查。理想情况下,应进行遗传分析以鉴定所涉及的突变。仅当患者需要改善肢体功能时才需要手术干预。
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