St George's, University of London, UK; Emeritus, Department of Radiology, Great Ormond Street Hospital, London, UK.
Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, London, UK.
Eur J Med Genet. 2021 Mar;64(3):104162. doi: 10.1016/j.ejmg.2021.104162. Epub 2021 Feb 7.
Three sibling fetuses identified with limb shortening and thoracic narrowing at twelve weeks' gestation on first trimester ultrasound examination are presented. The parents were non-consanguineous, Caucasian, healthy, of normal stature and had a healthy normal daughter. The radiographic abnormalities were highly suggestive of thanatophoric dysplasia, but molecular analysis failed to identify a pathogenic variant in FGFR3. The three fetuses were found to have identical compound heterozygous mutations in RMRP in trans, one inherited from the mother and one from the father. This represents the early prenatal presentation and fetal findings of metaphyseal dysplasia type McKusick (Cartilage-hair hypoplasia; CHH)/anauxetic dysplasia spectrum of disorders.
我们报告了三例同胞胎儿，他们在妊娠 12 周的早孕期超声检查中被发现存在肢体缩短和胸廓狭窄。父母非近亲结婚，为白种人，健康，身材正常，且育有一健康的正常女儿。影像学异常高度提示致死性发育不良，但分子分析未能在 FGFR3 中发现致病性变异。这三个胎儿均被发现存在 RMRP 基因的复合杂合突变，一个突变来自母亲，一个来自父亲。这代表了软骨-毛发发育不全症（CHH）/矮小发育不良型 McKusick （骨骼-毛发发育不全症；CHH）/矮小发育不良谱障碍的早期产前表现和胎儿发现。
