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https://www.um.edu.mt/library/oar/handle/123456789/59564| Title: | Silver-Russell syndrome : a review |
| Authors: | Spiteri, Bernice Sophie Yanika, Stafrace Calleja-Agius, Jean |
| Keywords: | Face -- Abnormalities Stature, Short Genomic imprinting Children -- Diseases Dwarfism |
| Issue Date: | 2017 |
| Publisher: | Springer Publishing Company |
| Citation: | Spiteri, B. S., Stafrace, Y., & Calleja-Agius, J. (2017). Silver-Russell syndrome : a review. Neonatal Network, 36(4), 206-212. |
| Abstract: | Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/59564 |
| Appears in Collections: | Scholarly Works - FacM&SAna |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Silver-Russell_syndrome_a_review_2017.pdf Restricted Access | 1.61 MB | Adobe PDF | View/Open Request a copy |
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