HANDIGODU DISEASE - A RADIOLOGICAL STUDY - A NEW VARIETY OF SPONDYLOEPI(META)PHYSEAL DYSPLASIA OF THE AUTOSOMAL-DOMINANT TYPE

被引:0
|
作者
AGARWAL, SS
PHADKE, SR
PHADKE, RV
DAS, SK
SINGH, GK
SHARMA, JP
TEOTIA, SPS
SAXENA, BN
机构
[1] SANJAY GANDHI POSTGRAD INST MED SCI,DEPT RADIOL,LUCKNOW 226014,UTTAR PRADESH,INDIA
[2] KING GEORGE MED COLL,DEPT ORTHOPED,LUCKNOW,UTTAR PRADESH,INDIA
[3] LLRM MED COLL,DEPT HUMAN METAB & ENDOCRINOL,MEERUT,UTTAR PRADESH,INDIA
[4] INDIAN COUNCIL MED RES,HRDR DIV,NEW DELHI,INDIA
关键词
HANDIGODU DISEASE; SPONDYLOEPI(META)PHYSEAL DYSPLASIA; AUTOSOMAL DOMINANT; OSTEOARTHRITIS;
D O I
暂无
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
Handigodu disease is a new syndrome of familial spondyloepi(meta)physeal dysplasia. It is inherited as an autosomal dominant trait. The disease is prevalent in a localised area of South India. On the basis of detailed clinical, anthropometric and radiological investigations of 234 affected individuals, it has been observed that different clinical presentations reflect variation in the severity of the disease. All of them could be explained as being caused by defective development of bones as a result of monogenic disorder.
引用
收藏
页码:611 / 619
页数:9
相关论文
共 2 条
  • [1] Peptide bound hypohydroxyprolinuria in Handigodu Disease: A familial syndrome of spondylo epi(meta)physeal dysplasia
    Badadani, Mallikarjun
    Babu, S. V. Suresh
    Shetty, K. T.
    Agarwal, S. S.
    DISEASE MARKERS, 2009, 27 (01) : 7 - 12
  • [2] Metaphyseal dysplasia:: A new autosomal dominant type in a large German kindred
    Braun, HS
    Nürnberg, P
    Tinschert, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (01): : 74 - 77