| Autor: |
Cory M. Pfeifer, MD, MPH, MS |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 15, Iss 5, Pp 474-478 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2020.01.034 |
| Popis: |
Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly. Presented here is a case of Pfeiffer syndrome type II demonstrating a cloverleaf skull configuration and multiple facial and skull base abnormalities characteristic of the disorder. The constellation of findings consistent with Pfeiffer syndrome type II described here provides imaging depictions helpful to the radiologist who may be able to suggest genetic testing for this disorder. Keywords: Acrocephalosyndactyly, Craniosynostosis, Pfeiffer syndrome |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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