[Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn].

Yalin C.T.; Bayrak I.K.; Danaci M.; Incesu L.

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Article . 2020

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Article . 2004

Data sources: Europe PubMed Central

[Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn].

descriptionPublicationkeyboard_double_arrow_right Article 12 Feb 2004 Turkey Turkish Journal:Tanisal ve girisimsel radyoloji : Tibbi Goruntuleme ve Girisimsel Radyoloji Dernegi yayin organi, volume 9 (issn: 1300-4360,

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Authors: Yalin C.T.; Bayrak I.K.; Danaci M.; Incesu L.;

pmid: 14661305

handle: 20.500.12712/2517

[Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn].

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Abstract

Chondrodysplasia punctata is a peroxisomal disorder which is a form of multiple epiphyseal dysplasia. It is characterized by calcifications of unossified cartilaginous epiphyseal centers during the first year of life. Severe autosomal recessive rhisomelic form shows bilateral proximal shortening of the upper and lower limbs with punctate epiphyseal calcifications. We report radiological findings of a patient with rhisomelic chondrodysplasia punctata. Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression.

PubMed: 14661305

Country

Turkey

Related Organizations

Ondokuz Mayıs University
Turkey

Keywords

Diagnosis, Differential, Radiography, Chondrodysplasia Punctata, Rhizomelic, Infant, Newborn, Humans, Magnetic Resonance Imaging

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