Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
OBJECTIVE
Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature 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 also implicated in the short stature phenotype and some additional stigmata of Turner syndrome. The aim of this study was to systematically examine left-hand radiographs from Turner girls for the presence of signs of LWD.


METHODS
We retrospectively studied 168 left-hand radiographs from 54 patients with 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 with GH deficiency. The shape of the distal radial epiphysis (triangularisation index = TI) and the carpal angle were quantitatively measured. In addition, we screened for the presence of a premature cleft fusion or an ulnar deviation of the articular surface of the distal radial epiphysis and for fourth metacarpal shortening. One of 54 Turner girls (2%) was affected with LWD and presented with Madelung deformity.


RESULTS
No milder forms of Madelung deformity were detected. However, there was a significant trend to a triangular 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
Binder
G
G
University Children's Hospital and Growth Research Center, Tübingen, Germany. gdbinder@med.uni-tuebingen.de
Fritsch
H
H
Schweizer
R
R
Ranke
M B
MB
D000293:Adolescent; D000328:Adult; D002348:Carpal Bones / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006225:Hand / Q000000981:diagnostic imaging; D018398:Homeodomain Proteins / Q000235:genetics; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D008663:Metacarpus / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012189:Retrospective Studies; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics; D014960:X Chromosome
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone