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Chondrodysplasia Punctata: A Rare Entity Identified Incidentally

Laura Olarte Bermúdez¹, Valeria Noguera¹, Valeria Del Castillo^1,2

¹Radiology, Fundación Santa Fe de Bogotá, Bogotá, COL.

|September 25, 2025

Summary

Chondrodysplasia punctata (CP) is a skeletal dysplasia diagnosed via radiographic imaging showing epiphyseal stippling. This case highlights imaging

Area of Science:

Medical Imaging
Skeletal Dysplasias
Pediatric Radiology

Background:

Chondrodysplasia punctata (CP) encompasses skeletal dysplasias defined by abnormal endochondral ossification and epiphyseal stippling.
Etiologies for CP are diverse, including genetic, metabolic, and teratogenic factors.
Differential diagnoses for epiphyseal stippling are broad, encompassing genetic disorders and embryopathies.

Keywords:

chest x-ray child chondrodysplasia punctata congenital disorders down syndrome

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