achondroplasia

 

Doctor's Information

Name : Maryam
Family :Haghighimorad
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.
Resident : ----------------

 

Patient's Information

Gender : Female
Age : 7

 

Case Section

Pediatric Radiology

 

Clinical Summary

7 year old boy presented with short stature.

 

Images

 

Imaging Procedures and Findings

7 year old boy presented with short stature.forearm,pelvic and spine xray are caught.

 

Discussion

ACHONDROPLASIA. This is the most common type of disproportionate dwarfism. Radiological findings Long bones The tubular hones are short. appear relatively widened and have prominent muscle insertions. The humeri and femora are affected more than distal bones (rhizomelia). The fibulas are long and bowed. The epiphyses are deformed by their insertion into V-shaped defects at the metaphyses. The epiphyses themselves have V-shaped distal ends with deep intercondylar notches the 'chevron' sign. The appearances are similar to those seen with local premature fusion after infection, trauma or irradiation. The joint spaces appear widened owing to the proximity of epiphyses and metaphyses. Retardation of ossification and a reduced AP diameter cause the upper ends of the femora of babies to appear relatively radiolucent. A defect is present in older children at the site of the epiphysis of the tibial tubercle due to an excess of uncalcified cartilage at this age. Pelvis The pelvis is small and its diameters reduced. The iliac blades are particularly small and rather square-the `tombstone' appearance. The acetabula are set posteriorly and the acetabular roofs are horizontal . L5 is deeply set and excessive pelvic tilt causes prominence of the buttocks and an illusion of lordosis. The sacrosciatic notch is narrow, with a prominent medially directed spur. The pelvic inlet resembles a champagne glass. Spine The AP diameters of vertebral bodies are often short but the height of vertebral bodies is insignificantly reduced. In the thoracolumbar region a vertebral body or two may appear wedged or bullet-nosed. In some, a thoracolumbar vertebral body nay resemble that found in Hurler's syndrome. Scalloping at the back of vertebrae may be seen (Fig. 35.71). The spinal canal in the lumbar region tapers caudally so that the i nterpedicular distances decrease from LI to L5 .The lateral view will also show the small spinal canal. Severe symptoms from disc protrusions are liable to develop in later lifethe spinal stenosis in the lumbosacral region is an important predisposing factor and can be confirmed by radiculography, CT or MRI . Hands and feet Tubular bones of the hands and feet appear short and wide, but carpal and tarsal bones are little affected The trident hand, in which all the fingers are almost of equal length and diverge from one another in two pairs plus the thumb, is often found.

 

Final Diagnosis

ACHONDROPLASIA

 

References

TEXTBOOK OF RADIOLOGY AND IMAGING.DAVID SUTTON.2003

 

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