Description

A 7-year-old girl presented with a history of recurrent fractures since the age of 1 month. She was born out of a non-consanguineous marriage and had short stature with macrocephaly and triangular facies. Her sclera and teeth were normal. She did not have any hearing defect or a family history of frequent fractures. Her biochemical metabolic profile was normal except for vitamin D deficiency which was corrected. She was provisionally …