Publications by authors named "Katsunori Ozawa"
Am J Med Genet A
February 2025
Article Synopsis
- - Baller-Gerold syndrome, RAPADILINO syndrome, and Rothmund-Thomson syndrome, which are linked to mutations in the RECQL4 gene, exhibit autosomal recessive inheritance and are often identified in infants and children.
- - Recent findings revealed two fetuses with severe structural abnormalities caused by biallelic RECQL4 variants during the perinatal period, such as underdeveloped forearms and legs, and one case involving significant lung issues.
- - One fetus tragically died due to respiratory failure, while the other pregnancy was terminated; the variants were confirmed through genetic sequencing techniques.
Article Synopsis
- * There are over 400 genetic skeletal disorders, but clinical practice usually encounters only a few; non-invasive prenatal genetic testing has improved prenatal diagnosis but imaging remains essential for accurate diagnoses.
- * Limb shortening often raises suspicion for bone dysplasias during screening ultrasounds, prompting further assessments with advanced imaging techniques like ultrasound, MRI, and CT to aid in decision-making.
