Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis

Hormone Research in Paediatrics

Volumn 76, Issue 3, 2011, Pages 178-185

  Salmon Musial, Anne Sophie ^a   Rosilio, Myriam ^b   David, Michel ^c   Huber, Céline ^d   Pichot, Emmanuel ^c   Cormier Daire, Valérie ^d   Nicolino, Marc ^c,e  

^a AMERICAN MEMORIAL HOSPITAL   (France)

^b Lilly France   (France)

^c Pediatric Endocrinology Department   (France)

^d INSERM   (France)

^e Groupement Hospitalier Est   (France)

Author keywords

Final heights; Growth hormone treatment; L ri Weill dyschondrosteosis; SHOX gene

Indexed keywords

HOMEODOMAIN PROTEIN; RECOMBINANT GROWTH HORMONE; SHORT STATURE HOMEOBOX PROTEIN; UNCLASSIFIED DRUG;

ANTHROPOMETRY; ARTICLE; BODY HEIGHT; CHILD; CLINICAL ARTICLE; DYSCHONDROSTEOSIS; FACE DYSMORPHIA; FEMALE; GENE DELETION; HORMONAL THERAPY; HUMAN; INFANT; MALE; OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; PALATE MALFORMATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SHORT STATURE; SMALL FOR DATE INFANT; TREATMENT DURATION; X RAY ANALYSIS;

ADOLESCENT; BODY HEIGHT; BODY WEIGHTS AND MEASURES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMAN GROWTH HORMONE; HUMANS; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 80054727253     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000329359     Document Type: Article

References (31)

1. Léri A, Weill J: Une affection congénitale et symétrique du développement osseux. La dyschondrostéose. Bull Mém Soc Med Hǒp Paris 1929; 35: 1491-1494.
2. Huber C, Rosilio M, Munnich A, Cormier- Daire V, French SHOX GeNeSIS Module: High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006; 43: 735-739. (Pubitemid 44483916)
3. Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. SHOX haploinsufficiency and Léri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab 2004; 89: 4403-4408.
4. Ross JL, Scott C Jr., Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR: Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 2001; 86: 5674-5680.
5. Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson S, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP: Analysis of short stature homeobox- containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. Human Genet 2001; 109: 551-558. (Pubitemid 33089315)
6. Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA: Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome. Eur J Hum Genet 2000; 8: 54-62. (Pubitemid 30113796)
7. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter R: Mutation and deletion of the pseudoautosomal gene SHOX cause Léri-Weill dyschondrosteosis. Nat Genet 1998; 19: 70-73.
8. Marchini A, Rappold G, Schneider KU: SHOX at a glance: From gene to protein. Arch Physiol Biochem 2007; 113: 116-123. (Pubitemid 47547384)
9. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek 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. (Pubitemid 27198156)
10. Blaschke RJ, Rappold GA: SHOX , growth, Léri-Weill and Turner syndromes. Trends Endocrinol Metab 2000; 11: 227-230.
11. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V: SHOX mutations in dyschondrosteosis (Léri-Weill syndrome). Nat Genet 1998; 19: 67-69.
12. Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, Munnich A, Cormier- Daire V: SHOX point mutations in dyschondrosteosis. J Med Genet 2001; 38: 323.
13. Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE: A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis. Am J Hum Genet 2005; 77: 533-544.
14. Usher R, McLean F: Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 1969; 74: 901-910.
15. Sempe M, Pedron G, Roy-Pernot MP: Auxologie, méthodes et sequences. Paris, Théraplix, 1979.
16. Rolland-Cachera MF, Cole TJ, Sempé M, Tichet J, Rossignol C, Charraud A: Body Mass Index variations: Centiles from birth to 87 years. Eur J Clin Nutr 1991; 45: 13-21.
17. Frederiks AM, van Buuren S, van Heel WJM, Dijkman-Neerincx RHM, Verloove-Vanhorick SP, Wit JM: Nationwide age references for sitting height, leg length, and sitting height/height ratio, and their diagnostic value for disproportionate growth disorders. Arch Dis Child 2005; 90: 807-812. (Pubitemid 41081357)
18. Flügel B, Greil H, Sommer K: Anthropologischer Atlas: Alters und Geschlechtsvariabilität des Menschen: Grundlagen und Daten. Frankfurt am Main, Wötzel, 1986.
19. Kosowicz J: The carpal sign in gonadal dysgenesis. J Clin Endocrinol Metab 1962; 22: 949-952.
20. Bayley N, Pinneau SR: Tables for predicting adult height from skeletal age: Revised for use with the Greulich-Pyle hand standards. J Pediatr 1952; 40: 423-441.
21. Greulich W, Pyle S: Radiographic Atlas of Skeletal Development of the Hand and Wrist, ed 2. Stanford, Stanford University Press, 1959.
22. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J Med Genet 2007; 44: 306-313. (Pubitemid 46732624)
23. Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr., Crowe B, Hovanes K, Elder FF, Zinn AR: The phenotype of short stature homeobox gene ( SHOX ) deficiency in childhood: Contrasting children with Léri-Weill dyschondrosteosis and Turner syndrome. J Pediatr 2005; 147: 499-507. (Pubitemid 41446545)
24. Tauber M, Lounis N, Coullet J, Rochiccioli P: Études des signes osseux évoquant une anomalie du gene SHOX dans le syndrome de Turner. Act Endocrinol Pediatr 2001: 99-109.
25. Binder G, Fritsch H, Schweizer R, Ranke MB: Radiological signs of Léri-Weill dyschondrosteosis in Turner Syndrome. Horm Res 2001; 55: 71-76. (Pubitemid 32757361)
26. Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G: Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res 2009: 71: 167-172.
27. Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G, SHOX Study Group: Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007; 92: 219-228.
28. Thuestad IJ, Iversson SA, Nilsson KO, Wattsgård C: Growth hormone treatment in Léri- Weill syndrome. J Pediatr Endocrinol Metab 1996; 9: 201-204.
29. 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.
30. Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold G. Growth hormone and gonadotropin- releasing hormone analog therapy in haploinsufficiency of SHOX Endocr J 2001; 48: 317-322. (Pubitemid 32625883)
31. Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glas IA, Batch JA. Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency. J Pediatr Endocrinol Metab 2003; 16: 997-1004. (Pubitemid 37259187)