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Title of Journal: Skeletal Radiol

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Abbravation: Skeletal Radiology

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Springer Berlin Heidelberg

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DOI

10.1002/zoo.21190

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1432-2161

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Radiologic findings of PattersonLowry rhizomelic

Authors: Çağrı Damar Öznur Boyunağa Betül Emine Derinkuyu Nergiz Battaloğlu Fatih Süheyl Ezgü
Publish Date: 2014/07/20
Volume: 43, Issue: 11, Pages: 1651-1654
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Abstract

We report two sisters who have a rare skeletal abnormality termed PattersonLowry rhizomelic dysplasia The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides The younger sister has normal hip joint bones bilaterally but her proximal femoral epiphyses are smaller than normal All other bones of the sisters are of normal size and configuration Our patients are two siblings and their parents are first degree relatives suggesting autosomalrecessive AR inheritence The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity

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