Autosomal recessive pontocerebellar hypoplasia comprises a group of devastating neurodegenerative disorders that lead to severe motor and cognitive impairment. Life expectancy varies based on subtype and is unpredictable; few patients live into adulthood. Prenatal diagnosis is challenging, as midtrimester imaging is usually normal. Families with a known mutation should be offered genetic counseling to discuss deoxyribonucleic acid banking of affected individuals, preimplantation, and prenatal testing options.
|Title of host publication||Obstetric Imaging|
|Subtitle of host publication||Fetal Diagnosis and Care, 2nd Edition|
|State||Published - Jan 1 2017|
- Motor and cognitive delay
- Progressive neurodegenerative disorder