20 April 2004
Congenital orthopaedic abnormalities and arthriticlike changes in a Tunisian family with Stickler syndrome
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Rare disease
Maher Ben Ghachem, Ali Al-Kaissi, Lasaad Dridi, Lotfi Hendaoui, Farid Ben ChehidaCase Rep Clin Pract Rev 2004; 5(null):300-304 :: ID: 12276
Abstract
Background: Stickler and co-workers in 1968 described a disorder, which is characterised by a combination of eye findings, hearing loss, cleft palate, marfanoid habitus, and bony changes.Case Report: We report a Tunisian family with Stickler syndrome . The proband presented with cleft palate, but there were marked bony changes that ranged in different family members, from an onset early in childhood of spondylo-epi-metaphyseal dysplasia , progressive myopia, to an adolescent onset of kyphosis . There were in addition skull changes not reported before.Conclusions: The phenotype of Stickler can be diverse and therefore misleading and in this case report we indicate the importance of being aware of this dominantly inherited condition. The expectation that the full criteria of any given genetic disorder will always be present, can easily lead to an underestimation of these serious inheritable disorders. Stickler syndrome with its unpleasant outcomes should be also suspected in children born with Robin sequence, with or withoutfamily history of cleft palate.
Keywords: Stickler Syndrome, Spondylo-epi-metaphyseal dysplasia, ophthalmo- arthropathy, marfanoid
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