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Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature

INTRODUCTION: Desbuquois dysplasia is a rare, but well described syndrome with remarkable clinical and radiographic variability ranging from mild skeletal involvement with normal intelligence to those with early fatal outcome. CASE PRESENTATION: Distinctive radiographic features of Desbuquois dyspla...

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Detalles Bibliográficos
Autores principales: Al Kaissi, Ali, Klaushofer, Klaus, Grill, Franz
Formato: Texto
Lenguaje:English
Publicado: Cases Network Ltd 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769382/
https://www.ncbi.nlm.nih.gov/pubmed/19918492
http://dx.doi.org/10.4076/1757-1626-2-7873

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