A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase / P. Frosst, H. J. Blom, R. Milos [et al.] // Nature Genetics. – 1995. – Vol. 10. – R. 111 – 113. Fowler B. [womab.com.ua]

A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. [ncbi.nlm.nih.gov]

When I first started seeing young women with urinary retention the medical teaching at that time was that the commonest cause of urinary retention in young women was “hysteria”. [fowlersyndrome.co.uk]

At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. [ncbi.nlm.nih.gov]

At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. [ncbi.nlm.nih.gov]

Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. [ncbi.nlm.nih.gov]

Postural abnormalities were seen in 10 fetuses and structural brain abnormalities were suspected in 3. At autopsy the cerebral cortex appeared as a translucent membranous structure (hydranencephaly) in most fetuses. [ncbi.nlm.nih.gov]

Glomeruloid vascular proliferation (cerebral cortex, cerebellum, brain stem, spinal cord). 46XY Family 3 5 20 wks Ventriculomegaly and a posterior fossa cyst, cerebellum not seen Dandy-Walker malformation (1.5cm posterior fossa cyst, small cerebellum) [ncbi.nlm.nih.gov]

An alternative hypothesis is that the CNS proliferative vasculopathy is the primary event and produces focal ischemic necrosis of adjacent white and gray matter, with neuronal loss, calcification, and gliosis. [ncbi.nlm.nih.gov]