title: First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Academic Hospital Rotterdam Dijkzigt, The Netherlands.
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: H J
authors.initials: HJ
authors.lastname: van der Harten
authors.forename: C
authors.initials: C
authors.lastname: Vermeij-Keers
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014463:Ultrasonography