Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q

Am J Med Genet. 1999 Aug 6;85(4):409-12. doi: 10.1002/(sici)1096-8628(19990806)85:4<409::aid-ajmg19>3.0.co;2-6.

Abstract

We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia.

Publication types

  • Case Reports

MeSH terms

  • Arm / diagnostic imaging
  • Arm / pathology
  • Chromosomes, Human, Pair 8*
  • Ectromelia / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Infant
  • Langer-Giedion Syndrome / complications
  • Langer-Giedion Syndrome / genetics*
  • Leg / diagnostic imaging
  • Leg / pathology
  • Male
  • Radiography
  • Tibia / abnormalities*
  • Ulna / abnormalities