Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
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中段和根茎性身材矮小：Leri-Weill 软骨发育不良和软骨发育不全或软骨发育不全的组合表型。
DOI：
10.1002/ajmg.a.10807
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Zinn,AndrewR
中科院分区：
文献类型：
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作者：
Ross,JudithL;Bellus,Gary;ScottJr,CharlesI;Abboudi,Jack;Grigelioniene,Giedre;Zinn,AndrewR
我们研究了两名儿童与组合遗传骨骼疾病。两例患者均患有Leri-Weill软骨发育不良（LWD）;一例还患有软骨发育不全，另一例患有软骨发育不全。两人都有严重的身材矮小和根状茎畸形和中肢畸形的证据，以及他们个人遗传疾病的其他表型特征。软骨发育不全是由于G380 RFGF 3R突变，软骨发育不良是由于同一基因的N540 K突变。软骨发育不全的患者有异源性SHOX缺失，软骨发育不全的儿童没有发现SHOX突变。LWD和软骨发育不全或软骨发育不全的表型似乎小于相加，表明SHOX和FGFR 3作用于骨生长和发育的重叠途径。© 2002 Wiley利斯公司
We studied two children with combined genetic skeletal disorders. Both had Leri‐Weill dyschondrosteosis (LWD); one also had achondroplasia and the other had hypochondroplasia. Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders. Achondroplasia was due to the G380RFGF3Rmutation and hypochondroplasia to a N540K mutation in the same gene. The patient with hypochondroplasia had a heterozygousSHOXdeletion; noSHOXmutation was identified in the child with achondroplasia. The phenotypes of combined LWD and achondroplasia or hypochondroplasia appeared to be less than additive, suggesting thatSHOXandFGFR3act on overlapping pathways of bone growth and development. © 2002 Wiley‐Liss, Inc.