Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition.
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.
It is characterized by:
- brainstem and basal ganglia calcification
- glomeruloid (proliferative) vasculopathy of cerebral vessels
- fetal akinesia deformation sequence with muscular hypoplasia
Fowler syndrome is inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 4.
- 1. Usta IM, Abumusa AA, Khoury NG et-al. Early ultrasonographic changes in Fowler syndrome features and review of the literature. Prenat. Diagn. 2005;25 (11): 1019-23. doi:10.1002/pd.1240 - Pubmed citation
- 2. Laurichesse-delmas H, Beaufrère AM, Martin A et-al. First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol. 2002;20 (6): 612-5. doi:10.1046/j.1469-0705.2002.00830.x - Pubmed citation
- 3. Williams D, Patel C, Fallet-bianco C et-al. Fowler syndrome-a clinical, radiological, and pathological study of 14 cases. Am. J. Med. Genet. A. 2010;152A (1): 153-60. doi:10.1002/ajmg.a.33094 - Pubmed citation
- 4. Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS. The Fowler syndrome-associated protein FLVCR2 is an importer of heme. (2010) Molecular and cellular biology. 30 (22): 5318-24. doi:10.1128/MCB.00690-10 - Pubmed