13Jul 2022
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

This study aims to describe prenatal ultrasonographic features in a retrospective fetal case series of BOCD and emphasize the importance of multidisciplinary antenatal evaluation of lethal skeletal dysplasias (LSDs) to improve differential diagnosis. All fetuses presented with severe sonographic findings of LSDs comprising tetramicromelia, thoracic hypoplasia, and retro‐micrognathia. Retro-micrognathia, protruding tongue, and severe metaphyseal flaring can suggest a diagnosis of BOCD when prenatal ultrasound findings indicate a lethal skeletal dysplasia. The diagnosis can be ascertained through postmortem clinical and radiological evaluation and/or molecular testing

  • #gynaecology - ivf

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