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Autosomal dominant craniometaphyseal dysphasia. Clinical variability

 

作者: Alessandra Carnevale,   Patricia Grether,   Victoria del Castillo,   Raul Takenaga,   Aurora Orzechowski,  

 

期刊: Clinical Genetics  （WILEY Available online 1983）
卷期: Volume 23, issue 1  

页码: 17-22

 

ISSN:0009-9163

 

年代: 1983

 

DOI:10.1111/j.1399-0004.1983.tb00431.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Bone dysplasia;craniometaphyseal dysplasia;dominant inheritance;osteopetrosis

 

数据来源: WILEY

 

摘要:

The autonomic dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.

 

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