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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...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
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Cases Network Ltd
2009
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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 |