| Autor: |
M. L. Cabrera, J. M. Valdés, M. E. Blanco, S. Kofman-Alfaro, J. C. Zenteno |
| Rok vydání: |
1998 |
| Předmět: |
|
| Zdroj: |
Fetal and Pediatric Pathology. 18:143-150 |
| ISSN: |
1551-3815 |
| DOI: |
10.3109/15513819809168782 |
| Popis: |
We report a stillborn female with most of the clinical, histologic, and radiographic characteristics of the short rib-polydactyly syndrome (SRPS) type IV (Beemer-Langer) but also presenting prominent metaphyseal and scapular irregularities and spiking, a feature not previously described in this disease but considered typical of types I (Saldino-Noonan) and III (Verma-Naumoff) SRPS. These data support the suggested hypothesis that the SRPS alternative manifestations of a single genetic entity. In addition, we found histologic features not previously documented in the Beemer-Langer syndrome illustrating the histopathologic variability of the condition. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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