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Early rehabilitation in a case of plurimalformative syndrome with deletions of chromosomes 13 and 18

Keywords: chromosomal abnormality , hypotonia , rehabilitation

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Deletion of long arm of chromosome 13 is characterized by malformations of the craniofacial region, skeletal abnormalities, other physical abnormalities and intellectual disability. Deletion of the long arm of chromosome 18 is a rare chromosomal disorder with a phenotype that may vary considerably in range and severity, depending on the type of deletion and location of the breakpoint. Subjects have characteristic features including short stature, mental retardation, hypotonia, malformations of the hands and feet, craniofacial abnormalities and numerous neurologic deficiencies with a high incidence of dysmyelination. In this paper we report the case of a female infant with multiple congenital abnormalities, craniofacial dysmorphism, severe mental retardation and severe hypotonia, who was found to have deletions of the long arm of chromosomes 13 and 18. We included her in a rehabilitation program from the age of eleven months. Rehabilitation programs aimed improving hypotonia as well as stimulating the development of motor skills. We observed the case for a period of one year, periodic monitoring of muscle tone and performance, along with the neurological status, showing significant motor and mental improvement. In conclusions: rehabilitation treatment is effective and must be an early intervention.


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