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Sedaghatian-Type Spondylometaphyseal Dysplasia: A Case of Rapid Demise with Evidence of Myocardial Injury
| Content Provider | Semantic Scholar |
|---|---|
| Author | Ipek, Mehmet Sah |
| Copyright Year | 2016 |
| Abstract | Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a lethal neonatal form of spondylometaphyseal dysplasias that is reported rarely. The case of a female infant demonstrating a clinical phenotype consistent with a diagnosis of SSMD was presented. She died with acute evidence of myocardial injury. Conclusion: In SSMD, certain organ systems including the central nervous, cardiac, and skeletal systems, are clearly involved. Although the exact cause of the uniform fatality remains unclear, cardiac involvement seems to play a role in the rapid and unexpected death. |
| File Format | PDF HTM / HTML |
| DOI | 10.23937/2378-3648/1410025 |
| Volume Number | 3 |
| Alternate Webpage(s) | https://clinmedjournals.org/articles/jggr/journal-of-genetics-and-genome-research-jggr-3-025.pdf |
| Alternate Webpage(s) | https://doi.org/10.23937/2378-3648%2F1410025 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
