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 dysplasia-typical hand type have been documented in a 3-year-old girl. Synophyrs, curly eyelashes and ptyrigium colli were additional findings. CONCLUSION: The phenotypic variability of Desbuquois syndrome might be an element of diagnostic confusion. However, distinctive radiographic features should urgently requiring attention and are virtually diagnostic. We report what might be the first clinical report of Desbuquois dysplasia from a consanguineous family in Austria. Unusual facial dysmorphism resembling Cornelia-De Lange syndrome and early patellar ossification were additional unreported features in connection with Desbuquois dysplasia.