Related Experiment Video
Updated: Sep 17, 2025
Three and Four-Dimensional Visualization and Analysis Approaches to Study Vertebrate Axial Elongation and Segmentation
Published on: February 28, 2021
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal
Immacolata Blasi1, Marzia Pollazzon2, Stefano Giuseppe Caraffi2
1Department of Obstetrics and Gynecology Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Background:
Ultrasound diagnosis of fetal skeletal conditions remains challenging. MYH3 is a gene that encodes the embryonic myosin heavy chain; it is important for skeletal and muscular development and is strongly expressed during fetal development. Variants in MYH3 are involved in distal arthrogryposes 2A and 2B3 and in spondyocarpotarsal synostosis syndrome with contractures and pterygia, contractures of proximal and distal joints, variable spine anomalies and vertebral, carpal and tarsal fusions.
Key Findings:
We describe a case in which prenatal ultrasonography detected abnormal bone density in the fetal spine. The fetus showed abnormal spinal segmentation, characterised by demineralisation and lacunar morphological tracts. x-rays and histological examination confirmed the ultrasonographic findings. We describe a unique ultrasonographic phenotype of fetal spine that has not yet been described in the literature. This is likely associated with two MYH3 variants. Therefore, we believe that abnormal spinal segmentation should be considered a relevant ultrasound finding.
Discussion:
Fetal ultrasound, together with radiological investigations, clinical examination of the fetal phenotype and histological investigations are essential in directing molecular genetic testing to identify rare diseases. We review the literature and describe a prenatal case with abnormal bone density in the spine. Whole-exome sequencing (WES) analysis in the fetus was performed to explore variants compatible with ultrasound signs.
Related Concept Videos
01:09Spongy Bone
Spongy bone is more porous, and less dense compared to compact bone. It is composed of concentric lamellae that are arranged irregularly to form the trabecular network. In some bones, the spaces between trabeculae contain red marrow, where...
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:22Sutures of the Skull
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:27Compact Bone
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...