Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome

Background/Aims: Leri-Weill dyschondrosteosis (LWD), a mesomelic short stat ure syndrome with Madelung deformity, was recently reported to be caused by SHOX (short stature homeobox-containing gene) haploinsufficiency. The loss of SHOX on Xp22.32, also called PHOG (pseudoautosomal homeobox-containing osteogenic gene), through structural aberrations of the X chromosome was al so implicated in the short stature phenotype and some additional stigmata o f Turner syndrome. The aim of this study was to systematically examine left -hand radiographs from Turner girls for the presence of signs of LWD. Metho ds: We retrospectively studied 168 left-hand radiographs from 54 patients w ith Turner syndrome (bone age > 10.5 years) who were treated with rhGH and seen during the last 10 years in our clinic. For comparison, we analyzed 7 radiographs from 5 patients with LWD and 52 radiographs from 20 patients wi th GH deficiency. The shape of the distal radial epiphysis (triangularisati on index = TI) and the carpal angle were quantitatively measured. In additi on, we screened for the presence of a premature cleft fusion or an ulnar de viation of the articular surface of the distal radial epiphysis and for fou rth metacarpal shortening. One of 54 Turner girls (2%) was affected with LW D and presented with Madelung deformity. Results: No milder forms of Madelu ng deformity were detected. However, there was a significant trend to a tri angular shape of the distal radial epiphysis in Turner syndrome: the median TI was 2.7 in normal controls (range 1.8-3.7), 3.1 in Turner girls (range 2.0-6.3) (p < 0.001 against controls), and 6.0 in patients with LWD (range 3.5-11.0) (p < 0.001 against controls). Conclusions: The triangularisation index did not correlate with the carpal angle (median 122.5 degrees, range 101.0-152.5 degrees). Furthermore, high TI alone or isolated low carpal ang le were not predictive for growth failure or skeletal disproportion in the 33 outgrown Turner girls. These data indicate that SHOX haploinsufficiency in Turner syndrome does rarely cause LWD. Copyright (C) 2001 S. Karger AG, Basel.