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

Cases Journal
Ali Al KaissiFranz Grill

Abstract

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. 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. 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.

References

Sep 1, 1991·European Journal of Pediatrics·M Le MerrerP Maroteaux
Aug 1, 1994·American Journal of Medical Genetics·M ShohatD L Rimoin
Jul 1, 1994·American Journal of Medical Genetics·R F OgleD O Sillence
Aug 1, 1997·Journal of Medical Genetics·J E AllansonM Ireland
Jul 25, 1998·Journal of Medical Genetics·C M HallD G Shaw
Feb 24, 2001·Pediatric Radiology·B D Hall
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Dec 18, 2003·American Journal of Medical Genetics. Part a·Laurence FaivreRalph Lachman
Dec 18, 2003·American Journal of Medical Genetics. Part a·Laurence FaivreMartine Le Merrer
Oct 1, 1950·The Journal of Pediatrics·L J LARSENF C BOST
Nov 24, 2004·American Journal of Medical Genetics. Part a·Ali Al KaissiK Kozlowski

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