Nerlich A G, Freisinger P, Bonaventure J
Pathologisches Institut, Universität München, Germany.
Am J Med Genet. 1996 May 3;63(1):155-60. doi: 10.1002/(SICI)1096-8628(19960503)63:1<155::AID-AJMG27>3.0.CO;2-M.
We describe two fetuses of the 21st week of gestation that share some macroscopic, radiologic, and histologic findings of thanatophoric dysplasia (TD), but also show distinct differences from the usual subtypes of TD. These differences mainly comprise the lack of facial abnormality, only mild reduction of chondrocyte proliferation and hypertrophy, and the lack of fibrous tissue interposition between cartilage and periosteal bone. Thus, these two cases may represent a distinct variant of thanatophoric dysplasia. The molecular analysis of the FGF-R-3 gene demonstrated in both cases mutations which were not significantly different from those of other cases of TD. Thus, the phenotypic modulation within the subtypes of TD may be influenced by additional and yet unknown factors.
我们描述了两名妊娠21周的胎儿，它们具有致死性骨发育不全（TD）的一些大体、放射学和组织学表现，但也显示出与TD常见亚型的明显差异。这些差异主要包括面部无异常、软骨细胞增殖和肥大仅轻度减少，以及软骨与骨膜骨之间缺乏纤维组织插入。因此，这两例病例可能代表致死性骨发育不全的一种独特变体。对FGF-R-3基因的分子分析表明，两例病例均存在突变，这些突变与其他TD病例的突变无显著差异。因此，TD各亚型内的表型调节可能受其他未知因素影响。
