Orthopedics - Oleksa A.P. 2006

Pathophysiology of Joints
Developmental Defects and Congenital Skeletal Anomalies
Stippled Epiphyseal Dysplasia

Dysplasia epiphysalis punctata results from impaired epiphyseal ossification and presents with characteristic radiological features.

In severe cases, the condition is diagnosed immediately after birth. The upper and lower limbs are shortened and accompanied by pronounced flexion-adduction contractures.

The Diagnosis is confirmed radiographically. Numerous small calcifications, roughly the size of peppercorns, are visible in the epiphyseal ossification centers of the long BONES OF THE limbs, wrists, and feet. Nearly 50% of children with the autosomal recessive form of the disease (Manzke H., Christophers E., 1980) die within the first year of life. Survivors exhibit clinical manifestations similar to those of Metaphyseal Dysostosis. Radiographs reveal deformed, punctate ossification centers, which are pathognomonic for this disorder.



Last update: 10/08/2026

Editorial and Educational Adaptation: This material has been compiled based on the primary/original source text. The project team performed an editorial review, corrected technical inaccuracies, structured sections, and adapted the content for an educational format.

What was processed:

  • elimination of formatting defects (OCR errors, structural breaks, corrupted characters);
  • editorial organization of content;
  • standardization of terminology in accordance with academic sources;
  • verification of factual statements against the original source text.

All mentions of the author, publication year, and origin of the primary text have been preserved in accordance with the source.