Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Tugba Sarac SivrikozTugba KalayciLeyli SenturkVolkan KaramanIbrahim Halil KaleliogluRecep HasHulya KayseriliZehra Oya UygunerGen NishimuraUmut AltunogluPublished in: Prenatal diagnosis (2022)
The presence of retro-micrognathia along with a protruding tongue and severe metaphyseal flaring can suggest a diagnosis of BOCD, when prenatal ultrasound findings are indicative for LSD. The diagnosis can be ascertained through postmortem clinical and radiological evaluation and/or molecular testing.