Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of
neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia …

Advances in neuroimaging, developmental biology and molecular genetics have increased
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …

Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with
three patients who presented with severe infantile encephalopathy associated with …

Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders
with prenatal onset. The common characteristics are cerebellar hypoplasia with variable …

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal
recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia …

Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive
neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have …

Prenatal diagnosis of congenital and acquired cerebellar disorders is possible by the use of
ultrasound (US) and magnetic resonance imaging (MRI). Although numerous studies have …

Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of
autosomal recessively inherited neurodevelopmental disorders. Following the rapidly …

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders
with reduced volume of pons and cerebellum. The term is purely descriptive and does not …

Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases
characterized by lack of development and/or early neurodegeneration of cerebellum and …