Rare Diseases Symptoms Automatic Extraction

Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.

[zellweger syndrome]

Abstract We present a 2-month-old male affected by Zellweger syndrome, a rare peroxisomal disorder. The diagnosis was supported by clinical and radiological findings and established by biochemical tests. The characteristic radiological features included anomalous ossification (epiphyseal stippling). We also discuss main differential diagnoses of epiphyseal stippling and a brief literature review.