Pseudoachondroplasia-Case Report

                            

Case: 11years old male with short stature  93cm.

Radiographic diagnosis of Pseudoachondroplasia is ideally made based on radiographs.

At a minimum, AP views of the hips, knees, and hands and a lateral view of the spine are required Findings include the following:

Radiographs of 11 years old male child showing the changes typical of pseudoachondroplasia

·         Delayed epiphyseal ossification and irregular epiphyses and metaphyses of the long bones (consistent)

·         Small capital femoral epiphyses, short femoral necks and irregular, flared metaphyseal borders; small pelvis and poorly modeled acetabulae with irregular margins that may be sclerotic, especially in older individuals

·         Anterior beaking or tonguing of the vertebral bodies on lateral view.

      This distinctive appearance of the vertebrae normalizes with age, emphasizing the

      importance of obtaining in childhood the radiographs to be used in diagnosis .

Characteristic features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence. Case Submitted by DR ANAND SHRIKANT GAJAKOS, CONSULTANT RADIOLOGIST   --ARMCHRC, SOLAPUR