Skeletal Muscle Abnormalities and Genetic Factors Related to Vertical Talus

Abstract

Background/rationale Congenital vertical talus is a fixed dorsal dislocation of the talonavicular joint and fixed equinus contracture of the hindfoot, causing a rigid deformity recognizable at birth. The etiology and epidemiology of this condition are largely unknown, but some evidence suggests it relates to aberrations of skeletal muscle. Identifying the tissue abnormalities and genetic causes responsible for vertical talus has the potential to lead to improved treatment and preventive strategies.

Treatment of Congenital Vertical Talus: Comparison of Minimally Invasive and Extensive Soft-Tissue Release Procedures at Minimum Five-Year Follow-up

“…Mutations in the HOXD10 7 and GDF5 8 genes have been identified in some patients with isolated vertical talus, with many additional genetic factors remaining unknown. Indeed, primary muscle abnormalities have been found on muscle biopsies in some cases 9 . Although both isolated and non-isolated vertical tali pose treatment challenges, it is generally accepted that non-isolated cases are more rigid and less responsive to treatment 10,11 .…”

Congenital vertical talus in Cri du Chat Syndrome: a case report

“…Primarily, it has been linked to disorders such as distal arthrogryposis and myelomeningocele, and an array of chromosomal abnormalities, single gene defects and known genetic conditions [5] (Table 1). …”

“…If untreated it can cause substantial pain and disability. Its incidence is approximately 1 in 100,000 live births, with no sex predilection, and it has association with neuromuscular abnormalities and identified genetic syndromes in 50% of cases [1-5]. This report presents a case of congenital vertical talus in an infant with Cri du Chat Syndrome (CdCS), which - so far as we are aware - has not been previously reported in literature.…”

What’s New in Pediatric Orthopaedic Surgery

“…The etiology and epidemiology of this condition are largely unknown, but some evidence suggests it relates to aberrations of skeletal muscle. Merrill et al 42 identified associated congenital anomalies and genetic abnormalities in sixty-one patients affected with vertical talus. They obtained abductor hallucis muscle biopsy specimens from the affected limbs of eleven of the sixty-one patients and compared the histopathologic characteristics with those of age-matched control subjects.…”