Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report

BACKGROUND: The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. CASE PRESENTATION: A 5-year-old boy from non-consanguineous family in Austria was born with features of...

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Detalles Bibliográficos
Autores principales: Al Kaissi, Ali, Ganger, Rudolf, Klaushofer, Klaus, Grill, Franz
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579916/
https://www.ncbi.nlm.nih.gov/pubmed/18950500
http://dx.doi.org/10.1186/1757-1626-1-270

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579916/
https://www.ncbi.nlm.nih.gov/pubmed/18950500
http://dx.doi.org/10.1186/1757-1626-1-270

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