| Autor: |
Vincenzo Iaccarino, Mario Alberto Santomauro, Francesco Elia, Adele Ferro, Domenico Bonaduce, Maurizio Santomauro, Liu Z, Mario Petretta, Salvatore Criscuolo, Raffaele Giordano, Carla Riganti |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Translational Neuroscience Research and Reviews. 1 |
| Popis: |
Craniosynostosis syndromes are rare and prognosis would benefit from early diagnosis and treatment. We tried to establish a fast molecular diagnosis method to detect craniosynostosis syndromes.One patient aged 6 months was observed and diagnosed at first, and then another 10 patients were included in this study. All of them suffered from congenital hydrocephalus with normal head circumference. Karyotype analysis, chromosome genome microarray analysis and whole exome sequencing were used.The first patient was diagnosed as Apert Syndrome based on his clinical features and whole exome sequencing. The other 10 patients were also detected by the same protocol and one of them was found to be with Crouzon Syndrome. Both of the patients with craniosynostosis syndrome were treated in time and benefited from this new diagnosis protocol.Craniosynostosis syndromes cause hearing loss and deformity. It is worthy to detect mutations on FGFR1, FGFR2 and FGFR3 for children who suffer from congenital hydrocephalus with normal head circumference. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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