Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case
Linkeropathies present with varying clinical manifestations and necessitate comprehensive genetic testing for accurate diagnosis of this complex patient group. Skeletal dysplasias, such as spondyloepimetaphyseal dysplasia, may be accompanied by atlantoaxial instability that can lead to serious spinal symptoms and even sudden death.
Authors
- Hüseyîn Çaksen (ORCID: https://orcid.org/0000-0002-8992-4386)
- Saliha Yavuz Eravcı (ORCID: https://orcid.org/0000-0002-5277-5583)
- Burcu Çalışkan (ORCID: https://orcid.org/0000-0001-8022-8862)
- Ahmet Sami Güven (ORCID: https://orcid.org/0000-0002-6085-1582)
- Nagehan Bilgeç (ORCID: https://orcid.org/0000-0003-0269-0941)
Institutions
- Necmettin Erbakan University (TR)
- Pediatrics and Genetics (US)
Publication Details
- Journal
- Clinical Dysmorphology
- Published
- 2024-12-10
- DOI
- https://doi.org/10.1097/mcd.0000000000000512
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.55