Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
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DOI：
10.1002/(sici)1096-8628(19980707)78:3
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发表时间：
1998-07-07
期刊：
影响因子：
--
通讯作者：
Rimoin, DL
中科院分区：
文献类型：
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作者：
Wilcox, WR;Tavormina, PL;Rimoin, DL
最近报道了塔纳特罗（Attophoric）发育不良（TD）中成纤维细胞生长因子受体3（FGFRS）基因的各种突变，我们检查了来自国际骨骼骨骼增生症的91例临床，放射学和组织学发现，并与特定的FGFR3相关联。突变。所有检查的TD病例都有一个可识别的FGFR3突变。从射线照相上，所有带有Lys650glu替代的病例均表现出直链裂，伴有颅内突变，并且经常证明叶绿叶颅骨（CS）。在所有其他情况下，股骨都是弯曲的，CS很少出现，但偶尔与TD一样严重，而Lys650glu取代。从组织病理学上讲，所有病例都具有类似的异常，但是Lys650GLU取代的病例可以更好地保存生长板。 Tyr373Cys取代的病例往往比ARG248CYS病例更严重，但它们之间的表型频谱有重叠。 TD的一种常见分类是根据CS的存在或不存在CS的影响，并且如Langer等人最初提出的，[1987：AM J Med Genet 3：167-179]，我们的数据表明TD可以是可以是根据直股骨或弯曲的股骨的存在，至少分为两组（TD1和TD2），在其他取代中，CS的存在以及放射学和组织学发现的严重程度可变，这可能是由于其他遗传，环境或随机因素所致。 （c）1998 Wiley-Liss，Inc。
Various mutations in the fibroblast growth factor receptor 3 (FGFRS) gene have recently been reported in thanatophoric dysplasia (TD), We examined the clinical, radiographic, and histologic findings in 91 cases from the International Skeletal Dysplasia Registry and correlated them with the specific FGFR3 mutation. Every case of TD examined had an identifiable FGFR3 mutation. Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated. In all other cases, the femora were curved, and CS was infrequently present but was occasionally as severe as TD with the Lys650Glu substitution. Histopathologically, all of the cases shared similar abnormalities, but cases with the Lys650Glu substitution had better preservation of the growth plate. Cases with the Tyr373Cys substitution tended to have more severe radiographic manifestations than the Arg248Cys cases, but there was overlap in the phenotypic spectrum between them. One common classification of TD distinguishes affected infants based on the presence or absence of CS, In contrast, and as originally proposed by Langer et al, [1987: Am J Med Genet 3: 167-179], our data suggest that TD can be divided into at least two groups (TD1 and TD2) based on the presence of straight or curved femora, The variable presence of CS and severity of the radiologic and histologic findings in the other substitutions may be due to other genetic, environmental, or stochastic factors. (C) 1998 Wiley-Liss, Inc.