First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia

✍ Scribed by den Hollander, Nicolette S.; van der Harten, Hans J.; Vermeij-Keers, Christl; Niermeijer, Martinus F.; Wladimiroff, Juriy W.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 73 KB
• Volume: 73
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19971219)73:3<345::aid-ajmg22>3.0.co;2-i

✦ Synopsis

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. Am.