This is a 3-year-old boy who is diagnosed to have a skeletal dysplasia of an indeterminate nature. After an extensive workup by pediatricians, pediatric endocrinologists, and pediatric radiologists his case was presented to world leading specialists during several international meetings.Their diagnosis was Short Limb Dwarfism. His presenting problem was limp. Physical examination revealed dysmorphic facial features and microcephaly.
His weight was 3 kg and he was below the third percentile for height. However, his cognitive development was appropriate for a 3-year-old boy, and he was able to walk and talk at this level. Upper extremities: normal Spine: mild thoracolumbar kyphosis, no scoliosis, but lumbar hyperlordosis Hips: adductor tightness, mild fixed flexion contractures, and subluxated hips The remainder of lower extremities: Normal alignment. What are the management options…
