22q11.2 deletion syndrome physical examination

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22q11.2 deletion syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Differentiating 22q11.2 deletion syndrome from other Diseases

Causes

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

History and physical are vital in the diagnosis and assesment of DGS. Most cases get diagnosed in the prenatal and pediatric periods, diagnosis can also occur in adulthood.

Physical Examination

Head

Ear

Throat

  • Laryngotracheoesophageal anomalies

Extremities

Neurologic

References

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