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Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head

 

作者: I Minguella,   M Ubierna,   J Escola,   A Roca,   J Prats,   G Pintos‐Morell,  

 

期刊: Acta Pædiatrica  （WILEY Available online 1993）
卷期: Volume 82, issue 3  

页码: 329-330

 

ISSN:0803-5253

 

年代: 1993

 

DOI:10.1111/j.1651-2227.1993.tb12676.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Bone dysplasia;bone gammagraphy;Legg‐Perthes‐Calvé;disease;trichorhinophalangeal syndrome

 

数据来源: WILEY

 

摘要:

We report the case of a seven‐year‐old girl with peculiar facial traits who presented for right coxalgia of six weeks' duration. The phenotypic findings corresponded to a trichorhinophalangeal syndrome, type I, and the clinical, radiological and gammagraphic characteristics were indicative of avascular necrosis of the right femoral head, Legg‐Perthes‐Calvé

 

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