J Pediatr Genet 2013; 02(04): 203-207
DOI: 10.3233/PGE-13070
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Zellweger syndrome: an older child with progressive foot deformity

David Westberry
a   Department of Pediatric Orthopedic Surgery, Shriners Hospitals for Children – Greenville, Greenville, South Carolina, USA
,
Linda Pugh
a   Department of Pediatric Orthopedic Surgery, Shriners Hospitals for Children – Greenville, Greenville, South Carolina, USA
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Publikationsverlauf

15. November 2013

04. Februar 2014

Publikationsdatum:
27. Juli 2015 (online)

Abstract

Zellweger spectrum disorders result from defects in the assembly of the peroxisome and are sometimes referred to as peroxisome biogenesis disorders. Orthopedic manifestations of this condition are variable. This case report illustrates an ambulatory child with Zellweger syndrome and progressive foot deformity. The course of treatment consisted of initial soft tissue surgery, early recurrence of the deformity, followed by successful arthrodesis.