Background/Aims: 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

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Merrer ML, Munnich A, Cormier-Daire V: SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nature Genetics 1998;19:67–69.
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1999;19:70–73.
Leri A, Weill J: Une affection congénitale et symétrique du développement osseux: La dyschondrostéose. Bull Mém Soc Med Hosp 1929;35:1491–1494.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsieck G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.
Ellison JW, Wardak Z, Young MF, Robey PG, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997;6:1341–1347.
Lippe B: Turner Syndrome. Endocrinol Metab Clin North Am 1991;20:121–152.
Kosho T, Muroyak, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T: Skeletal features and growth pattern in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999;84:4613–4621.
Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SLS, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA: Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 2000;8:54–62.
Binder G, Schwarze CP, Ranke MB: Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 2000;85:245–249.
Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA: The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9:695–702.
Necic S, Gant DB: Diagnostic value of hand x-rays in Turner’s syndrome. Acta Paediatr Scand 1978;67:309–312.
Langer LO: Dyschondrosteosis. A hereditable bone dysplasia with characteristic roentgenographic features. Am J Roentgenol Radium Ther Nucl Med 1965;95:178–186.
Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and Wrist, ed 2. Stanford, Stanford University Press, 1959.
Kosowicz J: The roentgen appearance of the hand and wrist in gonadal dysgenesis. Am J Roentgenol 1962;93:354–361.
Cook PA, Yu JS, Wiand W, Lubbers L, Coleman CR, Cook II AJ, Kean JR, Cook AJ: Madelung deformity in skeletally immature patients: Morphologic assessment using radiography, CT, and MRI. J Comp Ass Tomogr 1996;20:505–511.
Rosenfeld RG: Turner syndrome: A guide for physicians. The Turner’s Syndrome Society. Minnetonka, Minnesota, 1989.
MacGillivray MH, Morishima A, Conte F, Grumbach M, Smith EP: Pediatric endocrinology update: An overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: Lessons from mutations in the genes for aromatase and the estrogen receptor. Horm Res 1998;49(suppl 1):2–8.
Ranke MB, Guilbaud O, Linberg A, Cole T: Prediction of growth response in children with various growth disorders treated with growth hormone: Analyses of data from the Kabi Pharmacia International Growth Study. Acta Paediatr Suppl 1993;391:82–88.
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