Description
A 33-year-old woman presented with 1 week of dizziness and bilateral leg and hand cramps with associated numbness and tingling. She stated she was diagnosed with hypocalcaemia when she was approximately 8 years old, but could not elaborate further. She was a poor historian with learning disabilities and admittedly was non-compliant with treatment.
Physical examination revealed a round face, short stature (4'10'') and obesity (body mass index 39) with no neck scars. Her extremities were notable brachydactyly of her feet (figure 1) as well as brachydactyly of her fourth and fifth fingers (figure 2) with a positive Archibald's sign (figure 3). X-ray of her hands was significant for shortening of the fourth and fifth metacarpals (figure 4). EKG was remarkable for prolonged QT interval (figure 5). Brain CT revealed extensive calcification in the basal ganglia (figure...
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