Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Fowler syndrome - A clinical, radiological, and pathological study of 14 cases
American Journal of Medical Genetics, Part A, Volume 152, No. 1, Year 2010
Notification
URL copied to clipboard!
Description
We report on 14 fetuses from 10 families with the autosomal recessive syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly (Fowler syndrome). In four families sibs were affected and in six the parents were consanguineous. Antenatal ultrasonography showed hydrocephaly in all except two fetuses, but hydranencephaly was diagnosed in only one case. 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. However, in one case, the ventricles were dilated but the cortical mantle was relatively well preserved. Histology of the brain showed the characteristic glomeruloid vascular proliferation of Fowler syndrome in all cases, but with variable extent of involvement of the central nervous system. Dystrophic calcification and necrosis were always present. Extra-cranial anomalies included micrognathia (10 fetuses), cleft palate (1 fetus), cystic hygroma (2 fetuses), joint contractures (12 fetuses), and pterygia (11 fetuses). The typical proliferative vasculopathy was never observed outside the central nervous system and karyotypes were normal in the 10 fetuses studied. Fowler syndrome should be considered in the differential diagnosis of lethalmultiple pterygium syndrome, fetal akinesia, and hydrocephalus in addition to classical hydranencephaly. Autopsy and study of the brain are essential to differentiate autosomal recessive Fowler syndrome from other causes of hydrocephaly and hydranencephaly, which may have a lower recurrence risk. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
Williams, Denise K.
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Patel, Chirag
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Fallet-Bianco, Catherine
France, Paris
Centre Hospitalier Sainte-anne
Kalyanasundaram, Karthik
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Yacoubi, Mohamed Tahar
Tunisia, Sousse
Hopital Farhat Hached Sousse
Déchelotte, Pierre
France, Clermont-ferrand
Centre Hospitalier Universitaire de Clermont-ferrand
Scott, Rosemary
United Kingdom, London
University College London
Bazin, Anne
France, Paris
Centre Hospitalier Sainte-anne
Bessières, Bettina
France, Paris
Centre Hospitalier Sainte-anne
Marton, Tamas
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Cox, Phillip
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Statistics
Citations: 15
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.33094
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Maternal And Child Health