I型致死性骨发育不全伴并指（趾）畸形
Thanatophoric dysplasia type I with syndactyly.
作者信息
Brodie S G, Kitoh H, Lipson M, Sifry-Platt M, Wilcox W R
机构信息
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA.
出版信息
Am J Med Genet. 1998 Nov 16;80(3):260-2. doi: 10.1002/(sici)1096-8628(19981116)80:3<260::aid-ajmg15>3.0.co;2-s.
We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2. We conclude that mutations in FGFR3 may also be associated with developmental abnormalities due to interference with programmed cell death.
我们报告了一例1型致死性发育不良（TD1）病例，该病例因成纤维细胞生长因子受体3（FGFR3）基因中的Tyr373Cys突变所致，伴有手指和脚趾软组织并指（趾）畸形。此前在TD或其他FGFR3突变相关疾病中尚未有并指（趾）畸形的报道，但在一些因FGFR2突变导致的颅缝早闭综合征中会出现。我们得出结论，FGFR3突变也可能因干扰程序性细胞死亡而与发育异常有关。
Zotero 插件