CASE REPORT
Year : 2008 | Volume
: 42 | Issue : 4 | Page : 477--479
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
Anupama Tandon, Satish K Bhargava, Sandeep Goel, Shuchi Bhatt
University College of Medical Sciences and Guru Tegh Bahadur Hospital, Delhi, India
Correspondence Address:
Anupama Tandon
Department of Radiology and Imaging, U.C.M.S. and GTB Hospital, Delhi
India
Pseudoachondroplasia is a rare rhizomelic short-limbed skeletal dysplasia. Its inheritance is varied; autosomal dominant pattern and germline or somatic mutations can occur. Children at 2-3 years of age present with short height, gait disturbances, or limb deformities. Characteristic skeletal changes include shortening of long bones, predominantly of femur and humerus with irregular, flared metaphysis and fragmented epiphysis. Platyspondyly is also present, but the interpedicular distance is normal. The diagnosis is essentially based on imaging, and thus, it is important to be aware of the radiological features. Here, we report a case of two brothers where the elder sibling had classical radiological features of pseudoachondroplasia, whereas the younger one had early changes of this disorder.
How to cite this article:
Tandon A, Bhargava SK, Goel S, Bhatt S. Pseudoachondroplasia: A rare cause of rhizomelic dwarfism.Indian J Orthop 2008;42:477-479
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How to cite this URL:
Tandon A, Bhargava SK, Goel S, Bhatt S. Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. Indian J Orthop [serial online] 2008 [cited 2013 May 19 ];42:477-479
Available from: http://www.ijoonline.com/article.asp?issn=0019-5413;year=2008;volume=42;issue=4;spage=477;epage=479;aulast=Tandon;type=0 |
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