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Pathological Cases of the Month

Janet M. Miles, MD; Enid Gilbert-Barness, MD
Am J Dis Child. 1993;147(8):905-906. doi:10.1001/archpedi.1993.02160320107029.
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The patient first presented to her pediatrician at age 2 years with inward turning of her feet. She was fitted with orthopedic shoes. At age 4 years, her parents noticed constant toe walking, frequent falls, and tight heel cords requiring surgical intervention with serial casting. At age 6 years, she was not running as well as other children her age and was referred to a neuromuscular clinic for further evaluation. Her height at that time was 115cm; weight, 21kg. She had widely spaced, slanted eyes; drooping eyelids; and sagging facies. Her mouth tended to remain open, and she had a high arched palate. Neurologic examination revealed generalized hypotonia. The weakness was believed to be more severe in the distal upper extremity and proximal lower extremity. Deep tendon reflexes were absent. Results of sensory examination were normal. She had lordotic posturing when she walked and demonstrated a waddling gait and locking


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