A Rare Case Report of Split Hand and Foot Malformation

J Orthop Case Rep. 2023 Apr;13(4):49-52. doi: 10.13107/jocr.2023.v13.i04.3612.

Abstract

Introduction: Authors report a rare case report about split hand and foot malformation (SHFM) also sometimes referred to as ectrodactyly.

Case report: 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.

Conclusion: 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.

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

Publication types

  • Case Reports