First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia

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, (C) 1997 Wiley-Liss, Inc.