Rhizomelic chondrodysplasia punctata

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

Rhizomelic chondrodysplasia punctata
ICD-10 Q77.3
ICD-9 277.86
OMIM 215100 222765 600121
DiseasesDB 31410
MeSH D018902

Overview

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

Historical Perspective

Classification

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

See also

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