We analysed bone age radiographs in 102 girls with Turner syndrome and compared the findings with 93 control girls and nine girls with Leri-Weill syndrome. Various signs were analysed: radial bowing or Madelung deform...We analysed bone age radiographs in 102 girls with Turner syndrome and compared the findings with 93 control girls and nine girls with Leri-Weill syndrome. Various signs were analysed: radial bowing or Madelung deformity,maximal/minimal height of the radial epiphysis, brachymeta-carpia of the 4th digit, carpal and epiphyseal angle, as well as a new sign the distal radioulnar physeal disparity. Two values differed significantly between the Turner group and the control group, the first being the epiphyseal angle which has already been reported to be greater in Turner syndrome, and the second being the new sign we have been able to describe. Turner patients had an increased distance between the ulnar and radial metaphysis, or “ distal radio-ulnar physeal disparity” , the ulnar being shorter. Furthermore, in 27% of cases the medial extremity of the ulnar epiphysis was flattened and passed below the distal extremity of the radius, whose medial part projected over the distal extremity of the ulna, thus reproducing in reverse the characteristic feature of Leri-Weill syndrome. In the growth hormone-treated Turner patients, we found a significant correlation between distal radioulnar physeal disparity and growth velocity expressed in cm/year (r = 0. 28; P < 0. 002) or in SDS/bone age (r = 0. 21; P < 0. 03) during the first year of treatment. Conclusion: the value of this new sign requires further investigation.展开更多
We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondro-steosis)-(OMIM 127300), that of the lower extremit...We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondro-steosis)-(OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. Conclusion:Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.展开更多
0213646 ALX4同源盒基因在患有颅骨骨化作用缺陷(顶骨孔permagna,OMIM168500)的病人中发生突变/Wuyts W//J Med Genet.-2000,37(12).-916～920医科图0213647 源于古罗马不列颠人软骨骨生成障碍一例/Waldron H A//J Med Genet.-2000,37(1...0213646 ALX4同源盒基因在患有颅骨骨化作用缺陷(顶骨孔permagna,OMIM168500)的病人中发生突变/Wuyts W//J Med Genet.-2000,37(12).-916～920医科图0213647 源于古罗马不列颠人软骨骨生成障碍一例/Waldron H A//J Med Genet.-2000,37(10).-E27展开更多
文摘We analysed bone age radiographs in 102 girls with Turner syndrome and compared the findings with 93 control girls and nine girls with Leri-Weill syndrome. Various signs were analysed: radial bowing or Madelung deformity,maximal/minimal height of the radial epiphysis, brachymeta-carpia of the 4th digit, carpal and epiphyseal angle, as well as a new sign the distal radioulnar physeal disparity. Two values differed significantly between the Turner group and the control group, the first being the epiphyseal angle which has already been reported to be greater in Turner syndrome, and the second being the new sign we have been able to describe. Turner patients had an increased distance between the ulnar and radial metaphysis, or “ distal radio-ulnar physeal disparity” , the ulnar being shorter. Furthermore, in 27% of cases the medial extremity of the ulnar epiphysis was flattened and passed below the distal extremity of the radius, whose medial part projected over the distal extremity of the ulna, thus reproducing in reverse the characteristic feature of Leri-Weill syndrome. In the growth hormone-treated Turner patients, we found a significant correlation between distal radioulnar physeal disparity and growth velocity expressed in cm/year (r = 0. 28; P < 0. 002) or in SDS/bone age (r = 0. 21; P < 0. 03) during the first year of treatment. Conclusion: the value of this new sign requires further investigation.
文摘We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondro-steosis)-(OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. Conclusion:Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.
文摘0213646 ALX4同源盒基因在患有颅骨骨化作用缺陷(顶骨孔permagna,OMIM168500)的病人中发生突变/Wuyts W//J Med Genet.-2000,37(12).-916～920医科图0213647 源于古罗马不列颠人软骨骨生成障碍一例/Waldron H A//J Med Genet.-2000,37(10).-E27
