DiGeorge Syndrome: a not so rare disease
Angela B F Fomin1, Antonio Carlos Pastorino, Chong Ae Kim
1Instituto da Criança, Hospital das Clinicas, Universidade de São Paulo, SP, Brazil. angela.fomin@hotmail.com
Clinics (Sao Paulo, Brazil)
|November 5, 2010
Summary
DiGeorge Syndrome (22q11.2 deletion) presents with heart defects, facial abnormalities, and immune issues. Early suspicion is crucial for timely diagnosis and management of this common genetic disorder.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- DiGeorge Syndrome (DGS) is a primary immunodeficiency linked to chromosome 22q11.2 deletion.
- Characterized by hypocalcemia, heart defects, and thymic abnormalities, DGS affects approximately 1 in 3000 live births.
- Despite its frequency, the natural history and progression of DGS remain poorly understood due to diagnostic challenges and varied nomenclature.
Purpose of the Study:
- To document the clinical and laboratory findings in patients diagnosed with DiGeorge Syndrome.
- To characterize the phenotypic spectrum associated with 22q11.2 deletion.
Main Methods:
- Patients were evaluated using a standard clinical and epidemiological protocol.
- Diagnostic tests were employed to identify cardiac diseases, facial abnormalities, neurological disorders, and other comorbidities.
Main Results:
- Among 14 patients (8 male, ages 8 months to 18 years 11 months), 13 had confirmed 22q11.2 deletion.
- Key findings included conotruncal malformations (12 patients), facial abnormalities (11), hypocalcemia (5), and low lymphocyte counts (2).
Conclusions:
- Suspicion of DiGeorge Syndrome is warranted in patients with heart defects, facial abnormalities, and/or immunological disorders.
- Early diagnosis and follow-up are essential given the high frequency and varied presentations of DGS.
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