A new born is noted to have a large head and sho limbs. On fuher examination, sho broad fingers, a small face, and low-normal length are noted. The trunk appears long and narrow. To confirm the diagnosis you should: (A) Order an ophthalmologic examination, (B) Obtain skeletal radiographs, (C) Order choromosome analysis, (D) Examine the parents
Answer is B. Achondroplasia is the diagnosis 1st Achondroplasia is a genetic disorder that results in dwarfism. Obtain skeletal radiographs Ref : Nelson paediatrics