Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.

Abstract:

:We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry 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 autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.

journal_name

Skeletal Radiol

journal_title

Skeletal radiology

authors

Damar Ç,Boyunağa Ö,Derinkuyu BE,Battaloğlu N,Ezgü FS

doi

10.1007/s00256-014-1957-8

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

1651-4

issue

11

eissn

0364-2348

issn

1432-2161

journal_volume

43

pub_type

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