den Hollander N S, van der Harten H J, Vermeij-Keers C, Niermeijer M F, Wladimiroff J W
Department of Obstetrics and Gynecology, Academic Hospital Rotterdam Dijkzigt, The Netherlands.
Am J Med Genet. 1997 Dec 19;73(3):345-50.
Blomstrand chondrodysplasia is a rare lethal skeletal dysplasia with presumed autosomal-recessive inheritance. A family with 2 affected fetuses was studied. One fetus demonstrated a severe skeletal dysplasia at routine transabdominal ultrasound examination at 18.5 weeks of gestation. The pregnancy was terminated and the diagnosis of Blomstrand chondrodysplasia was made at autopsy. A second affected fetus was identified by first-trimester transvaginal ultrasound at 12 weeks of gestation. In this case the diagnosis was confirmed by posttermination radiography and histopathology. From these observations, Blomstrand chondrodysplasia seems like a lethal rhizo/mesomelic short-limb, early-onset dysplasia with autosomal-recessive inheritance. Easy detectability by transvaginal ultrasound is demonstrated, but general applicability awaits further studies on the intra- and interfamilial variability of this disorder.
布洛姆斯特兰德软骨发育不良是一种罕见的致死性骨骼发育异常，推测为常染色体隐性遗传。对一个有2名患病胎儿的家庭进行了研究。一名胎儿在妊娠18.5周时经腹部常规超声检查显示严重骨骼发育异常。妊娠终止，尸检诊断为布洛姆斯特兰德软骨发育不良。第二名患病胎儿在妊娠12周时经阴道超声检查发现。在这种情况下，终止妊娠后的X线摄影和组织病理学检查证实了诊断。从这些观察结果来看，布洛姆斯特兰德软骨发育不良似乎是一种致死性的根茎/中肢短肢、早发性发育异常，具有常染色体隐性遗传。经阴道超声易于检测，但这种疾病在家族内和家族间的变异性还有待进一步研究，以确定其普遍适用性。
