Shwachman-Diamond syndrome

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Shwachman-Diamond syndrome
OMIM 260400
DiseasesDB 11894

Shwachman-Diamond syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Shwachman-Diamond Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

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MRI

Echocardiography or Ultrasound

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Surgery

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]

Synonyms and keywords: Congenital lipomatosis of pancreas; Shwachman Bodian Diamond syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Shwachman-Diamond Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Cost Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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