Complex Anatomic Abnormalities of the Lower Leg Muscles and Tendons Associated With Phocomelia: A Case Report

J Foot Ankle Surg. 2017 Nov-Dec;56(6):1335-1338. doi: 10.1053/j.jfas.2017.06.008. Epub 2017 Aug 14.

Abstract

Musculoskeletal anatomy is widely known to have components that stray from the norm in the form of variant muscle and tendon presence, absence, origin, insertion, and bifurcation. Although these variant muscles and tendons might be deemed incidental and insignificant findings by most, they can be important contributors to pathologic physiology or, more importantly, an option for effective treatment. In the present case report, we describe a patient with phocomelia and Müllerian abnormalities secondary to in utero thalidomide exposure. The patient had experienced recurrent bilateral foot pain accompanied by numbness, stiffness, swelling, and longstanding pes planus. These symptoms persisted despite conservative treatment with orthotics, steroids, and nonsteroidal anti-inflammatory drugs. Radiographic imaging showed dysmorphic and degenerative changes of the ankle and foot joints. Further investigation with magnetic resonance imaging revealed complex anatomic abnormalities, including the absence of the posterior tibialis and peroneus brevis, lateralization of the peroneus longus, and the presence of a variant anterior compartment muscle. The variant structure was likely a previously described anterior compartment variant, anterior fibulocalcaneus, and might have been a source of the recurrent pain. Also, the absence of the posterior tibialis might have caused the pes planus in the present patient, considering that posterior tibialis tendon dysfunction is the most common cause of acquired pes planus. Although thalidomide infrequently affects the lower extremities, its effects on growth and development were likely the cause of this rare array of anatomic abnormalities and resulting ankle and foot pathologic features.

Keywords: anterior fibulocalcaneus; peroneus longus; pes planus; phocomelia; posterior tibialis; thalidomide.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / diagnostic imaging*
  • Abnormalities, Drug-Induced / physiopathology
  • Ankle Joint / abnormalities
  • Ankle Joint / diagnostic imaging
  • Ectromelia / complications
  • Ectromelia / diagnosis*
  • Female
  • Follow-Up Studies
  • Foot Joints / abnormalities
  • Foot Joints / diagnostic imaging
  • Humans
  • Lower Extremity / physiopathology
  • Magnetic Resonance Imaging / methods
  • Middle Aged
  • Muscle, Skeletal / abnormalities*
  • Muscle, Skeletal / anatomy & histology
  • Rare Diseases
  • Risk Assessment
  • Severity of Illness Index
  • Tendons / abnormalities*
  • Tendons / anatomy & histology
  • Thalidomide / administration & dosage
  • Thalidomide / adverse effects*

Substances

  • Thalidomide