Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.
Am J Med Genet A
; 194(4): e63488, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38062645
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Catarata
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Anormalidades Craniofaciais
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Colágeno Tipo XI
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Perda Auditiva Neurossensorial
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Canadá
País de publicação:
Estados Unidos