Keywords
genetic disease
X-linked
muscle hypotonic failure to thrive
mental retardation
How to Cite
Abstract
The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation.
We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and progressive spine deformation.
We stress the importance of early diagnosis to improve the quality of life of the patient by controlling neural sensory hearing deficit and progressive spine deformation (scoliosis and/or Kyphosis).
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