Reference : Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe men...
Scientific journals : Article
Human health sciences : Neurology
Human health sciences : Pediatrics
Life sciences : Genetics & genetic processes
Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation
Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
Misson, Jean-Paul mailto [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
Dubru, J. M. [> > > >]
Jamblin, P. [> > > >]
Le Merrer, M. [> > > >]
Clinical Dysmorphology
Yes (verified by ORBi)
[en] We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment.
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