Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>‐Related
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.
Authors
- Roberta Zuntini
- Jessica Daolio (ORCID: https://orcid.org/0000-0001-8871-6908)
- Livia Garavelli (ORCID: https://orcid.org/0000-0002-7684-3982)
- Andrea Superti‐Furga (ORCID: https://orcid.org/0000-0002-3543-7531)
- Marzia Pollazzon (ORCID: https://orcid.org/0000-0002-9865-0751)
- Stefano Giuseppe Caraffi (ORCID: https://orcid.org/0000-0002-5033-7854)
- Giuseppina Comitini
- Lorenzo Aguzzoli (ORCID: https://orcid.org/0000-0002-0723-151X)
- Sheila Unger (ORCID: https://orcid.org/0000-0002-9539-8941)
- Maria Paola Bonasoni (ORCID: https://orcid.org/0000-0002-4889-1944)
- Immacolata Blasi
Institutions
- Genedata (Switzerland) (CH)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Lausanne (CH)
Publication Details
- Journal
- Australasian Journal of Ultrasound in Medicine
- Published
- 2025-06-29
- DOI
- https://doi.org/10.1002/ajum.70015
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00