Author(s): R.S. Sethi, Lalit Kumar, Om Shankar Chaurasiya, Rohit Gorakh
A boy presented with rhizomalic shortening of limbs and progressive enlargement of head, his skeletal survey showed characteristic phenotypic features of achondroplasia. Achondro-plasia has been considered as the most common short-limbed dwarfism syndrome, but there are a variety of other syndromes within this category, and other types of limb shortening, which should be differentiated. There is abnormal physical growth, defective metaphysical modeling and shortness of tubular bone. Diagnosis is by physical examination, radiographic documentation, and, in some cases, genetic testing.