2 top medical experts on Tibia-Metacarpal Type Chondrodysplasia Punctata across 1 countries, including 1 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Tibia-Metacarpal Type Chondrodysplasia Punctata: A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:


  

        

                    


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