The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review
In SWS, accurate ultrasound diagnosis is crucial to provide prognostic information as the lethality does not depend on pulmonary hypoplasia. Examination of the hands looking for camptodactyly is crucial in skeletal dysplasias to distinguish SWS from other bent bone osteochondrodysplasias, namely, campomelic and kyphomelic dysplasias. This prenatal distinction has important implications for prognosis.
Authors
- H. Mirghani (ORCID: https://orcid.org/0000-0002-0463-6079)
- Muhammad Fathur Rouf Hasan (ORCID: https://orcid.org/0000-0002-2902-9785)
- Fares Chedid (ORCID: https://orcid.org/0000-0001-6606-3141)
- Muzibunnisa Begam
Institutions
- University of Leeds (GB)
- Al Ain Hospital (AE)
- Mediclinic City Hospital (AE)
Publication Details
- Journal
- Journal of Medical Ultrasound
- Published
- 2024-08-29
- DOI
- https://doi.org/10.4103/jmu.jmu_177_23
- Citations
- 1
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.55