A 45-year-old Asian man presented with complaints of progressive weakness of both the upper limbs, loss of temperature sensation resulting in frequent burns of both the hands, and progressive facial disfigurement. The patient had a short stature with a disproportionately short trunk, a short neck, kyphoscoliosis, and a protuberant abdomen because of lumbar lordosis. Facial dysmorphic features included hypertelorism, a depressed nasal bridge, dystopia, left blepharoptosis, and dolichocephaly (Fig. 1). Left-sided conductive deafness was found on pure tone audiometry. Neurological evaluation showed distal weakness and wasting of both the upper limbs, and loss of spinothalamic tract sensation of the face, upper limbs, and trunk above the umbilicus. Gorneal and conjunctival reflexes were absent on the left side.
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