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Auxological and anthropometric evaluation in skeletal dysplasias.
Mazzanti L, Matteucci C, Scarano E, Tamburrino F, Ragni MC, Cicognani A. Mazzanti L, et al. J Endocrinol Invest. 2010 Jun;33(6 Suppl):19-25. J Endocrinol Invest. 2010. PMID: 21057181
Skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs. If short limbs are observed, the reduction may affect the proximal (rhizomelic), the middle (mesomelic) or distal (acromelic) segments. …
Skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs. If …
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. Binder G, et al. J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8. doi: 10.1210/jc.2004-0591. J Clin Endocrinol Metab. 2004. PMID: 15356038
SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists. The aim of this study was to determine the prevalence of SHOX mutations in L …
SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic …
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.
Fukami M, Matsuo N, Hasegawa T, Sato S, Ogata T. Fukami M, et al. Eur J Endocrinol. 2003 Oct;149(4):337-41. doi: 10.1530/eje.0.1490337. Eur J Endocrinol. 2003. PMID: 14514349
DESIGN: Longitudinal auxological study in a 14 Year 9 Month old Japanese girl with Leri-Weill dyschondrosteosis accompanied by mesomelic short stature, who had a submicroscopic pseudoautosomal deletion involving SHOX, and pubertal development of an almost ave …
DESIGN: Longitudinal auxological study in a 14 Year 9 Month old Japanese girl with Leri-Weill dyschondrosteosis accompanied by mesomelic …
Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.
Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA. Munns CF, et al. J Pediatr Endocrinol Metab. 2003 Sep;16(7):997-1004. doi: 10.1515/jpem.2003.16.7.997. J Pediatr Endocrinol Metab. 2003. PMID: 14513876 Clinical Trial.
Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. ...Both patients demonstrated an increase in height standard deviation …
Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and …