Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia

No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind,…

Sleep disorders in Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical…

Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings

BACKGROUND: The aim of the present study was to show the results of an overnight polysomnography in a cohort of 9 children (7 females and 2 males)…

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and…