De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Tomà P, Venturini P L
Department of Obstetrics and Gynaecology, G. Gaslini Institute, University of Genova, Genova, Italy.
Prenat Diagn. 2000 Oct;20(10):835-7. doi: 10.1002/1097-0223(200010)20:10<835::aid-pd903>3.0.co;2-n.
Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed.
致死性骨发育不全是最常见的致死性骨骼发育不良类型。通常可通过超声进行诊断，但与其他骨软骨发育不良进行鉴别诊断并非总是可行的。已证实成纤维细胞生长因子受体3（FGFR3）基因的突变会导致该疾病的两种不同亚型。我们描述了一例在妊娠18周时通过超声诊断为I型致死性骨发育不全的病例。经绒毛取样获得的基因组DNA显示FGFR3基因第746位发生了C到G的替换，导致已知与I型疾病相关的Ser249Cys替换。文中讨论了对围产期管理的影响。
