Costello Syndrome. A case report
Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patien...
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| Format: | Article |
| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2014-06-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/2448 |
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| author | Yadelis Maldonado Martínez Alexander Torres Molina Diorgis Duran Lobaina |
| author_facet | Yadelis Maldonado Martínez Alexander Torres Molina Diorgis Duran Lobaina |
| author_sort | Yadelis Maldonado Martínez |
| collection | DOAJ |
| description | Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients. |
| format | Article |
| id | doaj-art-35e7b0250b344c4dac5a8c177d6a8773 |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2014-06-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-35e7b0250b344c4dac5a8c177d6a87732025-01-30T21:28:48ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2014-06-011235165211121Costello Syndrome. A case reportYadelis Maldonado Martínez0Alexander Torres Molina1Diorgis Duran Lobaina2Centro Municipal de Genética, Frank País. HolguínHospital Pediátrico Pedro Soto Alba, Moa. HolguínHospital Pediátrico Pedro Soto Alba, Moa. HolguínCostello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.http://medisur.sld.cu/index.php/medisur/article/view/2448síndrome de costellosíndromes neurocutáneosenfermedades genéticas congénitas |
| spellingShingle | Yadelis Maldonado Martínez Alexander Torres Molina Diorgis Duran Lobaina Costello Syndrome. A case report Medisur síndrome de costello síndromes neurocutáneos enfermedades genéticas congénitas |
| title | Costello Syndrome. A case report |
| title_full | Costello Syndrome. A case report |
| title_fullStr | Costello Syndrome. A case report |
| title_full_unstemmed | Costello Syndrome. A case report |
| title_short | Costello Syndrome. A case report |
| title_sort | costello syndrome a case report |
| topic | síndrome de costello síndromes neurocutáneos enfermedades genéticas congénitas |
| url | http://medisur.sld.cu/index.php/medisur/article/view/2448 |
| work_keys_str_mv | AT yadelismaldonadomartinez costellosyndromeacasereport AT alexandertorresmolina costellosyndromeacasereport AT diorgisduranlobaina costellosyndromeacasereport |