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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Unlabelled: Degenerative changes in the peripheral regions of the ocular fundus allow a closer look at both the role of collagen genes and their mutations in children with high myopia.
Purpose: The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations.
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[Marshall syndrome].
Rev Prat
October 2023
Département de pédiatrie, hôpital des Enfants-groupe hospitalier Pellegrin, CHU Bordeaux, Bordeaux, France.
MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of the disease: periodic fever, aphthous stomatitis, pharyngitis, and adenitis.
View Article and Find Full Text PDFGrowing up with Marshall syndrome: A case report from infancy to age 12.5 years.
Am J Med Genet A
April 2024
Department of Physical Therapy, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
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).
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