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Jacobsen syndrome associated with Shone's complex: a case report
Andressa Brum1, Larissa Valéria Laskoski1, Fabiana Gonçalves de Oliveira Azevedo Matos1
1Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Summary
This case report details a child diagnosed with Jacobsen syndrome, a rare genetic disorder caused by a deletion on chromosome 11q. The study provides valuable phenotypic information on its diverse craniofacial and cardiac manifestations.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Jacobsen syndrome is a rare genetic disorder resulting from a deletion on chromosome 11q.
- It is characterized by a spectrum of congenital anomalies.
Observation:
- A 5-year-old female presented with craniofacial anomalies and cardiac impairment.
- Karyotype testing confirmed Jacobsen syndrome.
- The cardiac condition was consistent with Shone's complex, involving left ventricle malformations.
Findings:
- Key features include short stature, delayed development, trigonocephaly, craniofacial dysmorphism, hematological alterations, and cardiac defects.
- The patient exhibited significant craniofacial and cardiac malformations.
Implications:
- This case highlights the importance of comprehensive phenotypic characterization in Jacobsen syndrome.
- Multidisciplinary monitoring and management are crucial for addressing associated comorbidities and developmental delays.
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