Noonan's Syndrome. Case Report
Noonan's syndrome is a genetic, little-known disease, produced for a mutation in the 12q22 chromosome. Few data on this affection exists in Cuba; since studies with a significant sample have not been conducted that demonstrate the real frequency of the affection. An eight year old patient’s cas...
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| Format: | Article |
| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2015-04-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/2806 |
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| author | Mirsa Rosas Hernández Elba Daisy Rivas Rodríguez Raúl E. Silva Silva |
| author_facet | Mirsa Rosas Hernández Elba Daisy Rivas Rodríguez Raúl E. Silva Silva |
| author_sort | Mirsa Rosas Hernández |
| collection | DOAJ |
| description | Noonan's syndrome is a genetic, little-known disease, produced for a mutation in the 12q22 chromosome. Few data on this affection exists in Cuba; since studies with a significant sample have not been conducted that demonstrate the real frequency of the affection. An eight year old patient’s case from Banes, Holguín, is presented, to whom the syndrome through comparative technique was diagnosed, and considering the clinics and radiological characteristics. The consent of parents to do and to divulge this report was taken into account. The interest of this case consists on the low frequency of appearing of Noonan's syndrome, in fact, the first one that has been diagnosed at the municipality. |
| format | Article |
| id | doaj-art-a38b828b147346489b655d0c389e58bf |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2015-04-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-a38b828b147346489b655d0c389e58bf2025-01-30T21:28:48ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2015-04-011323163201195Noonan's Syndrome. Case ReportMirsa Rosas Hernández0Elba Daisy Rivas Rodríguez1Raúl E. Silva Silva2Policlínica Universitario Cesar Fornet Frutos. Banes, HolguínFilial de Ciencias Médica Urselia Díaz Báez. Banes, HolguínHospital Materno Infantil Luis Mario Cruz Cruz. Banes, HolguínNoonan's syndrome is a genetic, little-known disease, produced for a mutation in the 12q22 chromosome. Few data on this affection exists in Cuba; since studies with a significant sample have not been conducted that demonstrate the real frequency of the affection. An eight year old patient’s case from Banes, Holguín, is presented, to whom the syndrome through comparative technique was diagnosed, and considering the clinics and radiological characteristics. The consent of parents to do and to divulge this report was taken into account. The interest of this case consists on the low frequency of appearing of Noonan's syndrome, in fact, the first one that has been diagnosed at the municipality.http://medisur.sld.cu/index.php/medisur/article/view/2806síndrome de noonanenfermedades genéticas congénitasdiagnóstico diferencial |
| spellingShingle | Mirsa Rosas Hernández Elba Daisy Rivas Rodríguez Raúl E. Silva Silva Noonan's Syndrome. Case Report Medisur síndrome de noonan enfermedades genéticas congénitas diagnóstico diferencial |
| title | Noonan's Syndrome. Case Report |
| title_full | Noonan's Syndrome. Case Report |
| title_fullStr | Noonan's Syndrome. Case Report |
| title_full_unstemmed | Noonan's Syndrome. Case Report |
| title_short | Noonan's Syndrome. Case Report |
| title_sort | noonan s syndrome case report |
| topic | síndrome de noonan enfermedades genéticas congénitas diagnóstico diferencial |
| url | http://medisur.sld.cu/index.php/medisur/article/view/2806 |
| work_keys_str_mv | AT mirsarosashernandez noonanssyndromecasereport AT elbadaisyrivasrodriguez noonanssyndromecasereport AT raulesilvasilva noonanssyndromecasereport |