Abstract
Diastrophic dysplasia (DTD) is a rare syndrome which is characterized by disproportionate short stature, normal-sized skull, joint deformities, and hitch-hiker thumbs. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, clubfoot, and cystic swelling of the pinnae. DTD is inherited autosomal recessively. The diagnosis of DTD depends upon a combination of clinical and radiologic features. The diagnosis is confirmed by molecular genetic testing of DTDST (SLC26A2), the only gene known to be associated with DTD.We report here a 6-years and 3-months-old boy who was wrongly diagnosed for various diseases due to his limb shortening, disproportionate short stature, joint deformities, and limited movement
Keywords: Diastrophic dysplasia, short stature, limb shortening, hitch-hiker thumbs
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