Zellweger syndrome

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Epiphyseal stippling

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.


Total: 2

                       


(per page)
PMID (PMCID)
24030027
 MALE Infant
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.
Kumar S, Suthar R, Sharda S, Panigrahi I, Marwaha RK.
J Pediatr Endocrinol Metab. 2014;27(1-2):185-8.
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.
2160110
 MIXED_SAMPLE Infant, Newborn
[Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata].
Leicher-Duber A, Schumacher R, Spranger J.
Rofo. 1990;152(4):463-8.
We present patients with Cumarin-embryopathy (2), fetal alcohol syndrome (1), Zellweger-syndrome (2) and chromosomal anomaly 16 (1) and discuss the typical roentgenographic features, distribution and differential diagnosis of epiphyseal stippling.