Fowler syndrome

nicht verwechseln mit: Fowler-Christmas-Chapple-Syndrom

Fowler 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:

Pathology

Fowler syndrome is inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 .

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