Pseudoachondroplasia: A rare cause of rhizomelic dwarfism.

Abstract:

: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.

journal_name

Indian J Orthop

authors

Tandon A,Bhargava SK,Goel S,Bhatt S

doi

10.4103/0019-5413.43400

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

477-9

issue

4

eissn

0019-5413

issn

1998-3727

journal_volume

42

pub_type

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