Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India

Eur J Med Genet. 2019 Jul;62(7):103666. doi: 10.1016/j.ejmg.2019.05.005. Epub 2019 May 10.

Abstract

Purpose: Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years.

Methods: Retrospective review of medical records of patients seen at single center in 10 years.

Results: Thirty-five cases of TH, mostly Jones types Ia (18) and II (10), were diagnosed in 24 patients (13 had unilateral TH). Associated foot deformities included equinovarus (22), varus foot (10), absence of the medial row of toes (5) and polydactyly (3). Upper limbs anomalies included split-hand deformity (five patients) and radial club hand (two patients). Nine limbs of seven patients were surgically reconstructed. Modified orthosis was provided to seven patients, custom designed prosthesis fitment in six and amputation with prosthesis fitment in one. Patients presenting at adolescence or later were habituated to their deformity for indoor ambulation; families declined amputation.

Conclusion: Reports of more TH cases will provide input to researchers to consider comprehensive rehabilitation for enhancing indoor and community ambulation.

Keywords: Ambulation; Amputation; Congenital anomaly; Equinovarus; Tibial hemimelia.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Ectromelia / genetics
  • Ectromelia / pathology*
  • Female
  • Humans
  • India
  • Infant
  • Male
  • Phenotype
  • Tibia / abnormalities*
  • Tibia / pathology
  • Young Adult

Supplementary concepts

  • Absence of Tibia