Fowler syndrome
nicht verwechseln mit: Fowler-Christmas-Chapple-SyndromFowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition.
Terminology
Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting in urinary retention in young women.
Clinical presentation
It is characterized by:
- hydranencephaly
- brainstem and basal ganglia calcification
- glomeruloid (proliferative) vasculopathy of cerebral vessels
- fetal akinesia deformation sequence with muscular hypoplasia
Pathology
Fowler syndrome is inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 .
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Fowler-Syndrom:
