Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus

Clin Dysmorphol. 1999 Jul;8(3):223-5.

Abstract

Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anus, Imperforate / pathology*
  • Female
  • Fetus / diagnostic imaging
  • Humans
  • Pregnancy
  • Radiography
  • Spine / abnormalities*
  • Syndactyly / diagnostic imaging*
  • Tibia / pathology*