The value of X-ray graphy in the diagnosis of the rhiozomelic chondrodysplasia punctata: a case report: Rizomelik kondrodisplazia punktata tanısında direkt grafinin değeri: bir olgu sunumu

Sedat Işıkay; Kürşat Bora Carman; Ayşe Aysima Özçelik

doi:10.5455/GMJ-30-2013-158

Authors

Sedat Işıkay Gaziantep Children Hospital, Pediatric Neurology Clinic, Gaziantep
Kürşat Bora Carman Gaziantep Children Hospital, Pediatric Neurology Clinic, Gaziantep
Ayşe Aysima Özçelik University of Gaziantep, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Gaziantep

DOI:

https://doi.org/10.5455/GMJ-30-2013-158

Keywords:

Calcification, child, rhizomelic chondrodysplasia punctata

Abstract

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by typical facial appearances, contracture, proximal shortening of the extremities, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities, clefts of the vertebral bodies and mental retardation. Diagnosis is usually made based on clinical and radiological criteria. Peroxisome functions, such as the red blood cell concentration of plasmalogenes and the plasma concentrations of phytanic acid and very long chain fatty acids are biochemical indicators of RCDP. In this article, we present a case of the rare disorder RCDP manifested as proximal limb shortening, punctuate calcifications of the cartilage, vertebral clefts, cataracts and hypotonia. In conclusion, case with dysmorphic facial appearances, proximal shortening of the extremities, and contractures should be considered RCDP. Furthermore, direct X-Ray findings can contribute to diagnosis.

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