Growing up with Marshall syndrome: A case report from infancy to age 12.5 years
1Department of Physical Therapy, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Insights
Marshall syndrome, a rare genetic disorder, is detailed through a unique longitudinal case study from birth to age 12.5. This report offers insights into the child's development and parental experiences following diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Marshall syndrome is an extremely rare genetic disorder with a prevalence of less than 1 in 1 million.
- Diagnosis typically occurs in infancy.
Abstract:
Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of <1 in 1 million. Based on the literature reviewed, this is the first case report to provide a longitudinal history of a child with Marshall syndrome (from birth to age 12.5 years). This longitudinal case report arose in part from desires of this child's parents to share the story of their early fears at her initial diagnosis and compare those to how well she has turned out.
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