Statistics from Altmetric.com
Editor—Van Royen-Kerkhof et al 1 reported two boys with Gaucher disease type 1 and Joubert syndrome (JS). Their case 1 had, in addition to mental retardation, choreoretinal colobomas, cerebellar vermis agenesis, and abnormal breathing, agenesis of the corpus callosum, hydrocephalus (no further details given), and generalised seizures. Their case 2 had prenatal hydrocephalus and “fulfilled the diagnostic criteria for JS”. Information about brain anatomy and retinal findings in case 2 is lacking.
We question the diagnosis of JS in these two patients. …
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.