Rhizomelic chondrodysplasia punctata

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia.

Historical Perspective

Classification

Type 1 is associated with PEX7
Type 2 is associated with DHAPAT
Type 3 is associated with AGPS (gene)

Pathophysiology

Causes

Differentiating Rhizomelic chondrodysplasia punctata from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

External links

eNotes

References

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