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

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 Turle au et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II i s 8q24.1. Although no genes involving limb development in the human have be en identified in this region, two mouse syndromes are localized to the homo logous chromosome region of 9A1-A4 which involve limb abnormalities. We pro pose that a gene involved in limb development is contiguous with the TRPS I I gene which, when deleted, may cause tibial hemimelia. (C) 1999 Wiley-Liss , Inc.