Chondrodysplasia punctata (CP) is a group of skeletal dysplasias characterized by abnormal endochondral ossification and epiphyseal stippling, often associated with genetic, metabolic, or teratogenic etiologies. We present a rare case of a four-year-old child in whom radiographic imaging revealed classic features of CP. The differential diagnosis of epiphyseal stippling includes a wide range of conditions, such as Zellweger spectrum disorders, Smith-Lemli-Opitz syndrome, and embryopathies from maternal autoimmune disease or warfarin exposure. Recognition of the stippled pattern in conjunction with rhizomelia and facial dysmorphisms on radiographs is critical for early diagnosis and multidisciplinary management. Although molecular testing may provide a definitive diagnosis, radiologic evaluation remains a cornerstone in identifying and characterizing these entities, especially when genetic testing is unavailable. This report highlights the pivotal role of imaging in diagnosing CP, particularly in atypical clinical contexts, and aims to contribute to the understanding of phenotypic variability and radiologic presentation in skeletal dysplasias.
Bermúdez et al. (Sun,) studied this question.
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