Jacobsen syndrome associated with Shone’s complex: a case report
ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented...
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Sociedade de Pediatria de São Paulo
2025-01-01
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| Series: | Revista Paulista de Pediatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100606&lng=en&tlng=en |
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| author | Andressa Brum Larissa Valéria Laskoski Fabiana Gonçalves de Oliveira Azevedo Matos Luciana Paula Grégio d’Arce |
| author_facet | Andressa Brum Larissa Valéria Laskoski Fabiana Gonçalves de Oliveira Azevedo Matos Luciana Paula Grégio d’Arce |
| author_sort | Andressa Brum |
| collection | DOAJ |
| description | ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone’s complex. Comments: Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. Thus, the child is being monitored at a Craniofacial Anomalies Center with a multi-professional team in order to monitor her development and treat the associated comorbidities. |
| format | Article |
| id | doaj-art-88ed33dbeb8748528565b8cda7be8e12 |
| institution | Kabale University |
| issn | 1984-0462 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Sociedade de Pediatria de São Paulo |
| record_format | Article |
| series | Revista Paulista de Pediatria |
| spelling | doaj-art-88ed33dbeb8748528565b8cda7be8e122025-01-21T07:41:21ZengSociedade de Pediatria de São PauloRevista Paulista de Pediatria1984-04622025-01-014310.1590/1984-0462/2025/43/2024136Jacobsen syndrome associated with Shone’s complex: a case reportAndressa Brumhttps://orcid.org/0000-0003-1191-5022Larissa Valéria Laskoskihttps://orcid.org/0000-0001-8185-3790Fabiana Gonçalves de Oliveira Azevedo Matoshttps://orcid.org/0000-0002-5283-5363Luciana Paula Grégio d’Arcehttps://orcid.org/0000-0002-8428-5319ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone’s complex. Comments: Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. Thus, the child is being monitored at a Craniofacial Anomalies Center with a multi-professional team in order to monitor her development and treat the associated comorbidities.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100606&lng=en&tlng=en11q deletion syndromeCraniofacial abnormalitiesCongenital heart defectGrowth disorder |
| spellingShingle | Andressa Brum Larissa Valéria Laskoski Fabiana Gonçalves de Oliveira Azevedo Matos Luciana Paula Grégio d’Arce Jacobsen syndrome associated with Shone’s complex: a case report Revista Paulista de Pediatria 11q deletion syndrome Craniofacial abnormalities Congenital heart defect Growth disorder |
| title | Jacobsen syndrome associated with Shone’s complex: a case report |
| title_full | Jacobsen syndrome associated with Shone’s complex: a case report |
| title_fullStr | Jacobsen syndrome associated with Shone’s complex: a case report |
| title_full_unstemmed | Jacobsen syndrome associated with Shone’s complex: a case report |
| title_short | Jacobsen syndrome associated with Shone’s complex: a case report |
| title_sort | jacobsen syndrome associated with shone s complex a case report |
| topic | 11q deletion syndrome Craniofacial abnormalities Congenital heart defect Growth disorder |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100606&lng=en&tlng=en |
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