Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature
Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in t...
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| Format: | Article |
| Language: | Spanish |
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Universidad de las Ciencias Médicas de Cienfuegos
2022-12-01
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| Series: | Revista Finlay |
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1177 |
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| author | Anolys Narciso Piña Rodríguez Osiris Intento García Sady Montes Amador |
| author_facet | Anolys Narciso Piña Rodríguez Osiris Intento García Sady Montes Amador |
| author_sort | Anolys Narciso Piña Rodríguez |
| collection | DOAJ |
| description | Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in the gene can help to specify the diagnostic spectrum, genetic counseling and treatment. Around 30 cases have been described in the literature, although it is known that it has occurred in less than 200,000 people in the world, being considered a rare clinical condition. We present the case of a newborn, who at birth was found to have multiple musculoskeletal malformations: radial aplasia, aplastic thumbs, malformations of the rib cage, clinodactyly of all the fingers of the upper limbs, hypoplastic forearms, clinodactyly of the left lower limb. She was given parenteral feeding for several days, it was impossible to establish an adequate oral route due to the absence and/or incoordination of the sucking-swallowing reflexes as an expression of her malformations at the central nervous system level. The case is presented due to its low incidence and prevalence, which is why it is considered a rare disease. |
| format | Article |
| id | doaj-art-9a8c1bbd180e422aa5a6855e1a057f4d |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2022-12-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-9a8c1bbd180e422aa5a6855e1a057f4d2025-01-30T21:22:01ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342022-12-01124491495603Baller-Gerold Syndrome. About a Clinical Case and Review of the LiteratureAnolys Narciso Piña Rodríguez0Osiris Intento García1Sady Montes Amador2Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in the gene can help to specify the diagnostic spectrum, genetic counseling and treatment. Around 30 cases have been described in the literature, although it is known that it has occurred in less than 200,000 people in the world, being considered a rare clinical condition. We present the case of a newborn, who at birth was found to have multiple musculoskeletal malformations: radial aplasia, aplastic thumbs, malformations of the rib cage, clinodactyly of all the fingers of the upper limbs, hypoplastic forearms, clinodactyly of the left lower limb. She was given parenteral feeding for several days, it was impossible to establish an adequate oral route due to the absence and/or incoordination of the sucking-swallowing reflexes as an expression of her malformations at the central nervous system level. The case is presented due to its low incidence and prevalence, which is why it is considered a rare disease.https://revfinlay.sld.cu/index.php/finlay/article/view/1177mutaciones anuladorassistema nervioso centralreporte de casos |
| spellingShingle | Anolys Narciso Piña Rodríguez Osiris Intento García Sady Montes Amador Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature Revista Finlay mutaciones anuladoras sistema nervioso central reporte de casos |
| title | Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature |
| title_full | Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature |
| title_fullStr | Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature |
| title_full_unstemmed | Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature |
| title_short | Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature |
| title_sort | baller gerold syndrome about a clinical case and review of the literature |
| topic | mutaciones anuladoras sistema nervioso central reporte de casos |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/1177 |
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