Fowler syndrome presenting as a dandy-walker malformation: A second case report

Pediatric and Developmental Pathology

Volumn 12, Issue 1, 2009, Pages 68-72

  Al Adnani, Mudher ^a   Kiho, Liina ^a   Scheimberg, Irene ^a  

^a ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

Dandy walker cyst; Fowler syndrome; Proliferative vasculopathy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DANDY WALKER SYNDROME; FEMALE; FETUS; FOWLER SYNDROME; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRANENCEPHALY; HYDROCEPHALUS; MALE; PRIORITY JOURNAL; SYMPTOM; VASCULAR DISEASE;

ABNORMALITIES, MULTIPLE; ADULT; BLOOD VESSELS; DANDY-WALKER SYNDROME; FEMALE; HUMANS; HYDRANENCEPHALY; HYDROCEPHALUS; MALE; PREGNANCY;

EID: 61449242862     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-09-0348.1     Document Type: Article

References (17)

1. Fowler M, Dow R, White TA, Greer CH. Congenital hydrocephalus- hydranencephaly in five siblings with autopsy studies: a new disease. Dev Med Child Neurol 1972;14:173-188.
2. Castro-Gago M, Pintos-Martinez E, Forteza-Vila J. Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction. J Child Neurol 2001;16:858-862.
3. Halder A, Panigrahi I, Pal L. Fowler-like syndrome with extreme oligohydramnios, growth restriction and without muscular hypoplasia. Indian Pediatr 2003;40:418-423.
4. Harding BN, Ramani P. Thurley P. The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunohistochemical and ultrastructural evidence for endothelial proliferation. Neuropathol Appl Neurobiol 1995;25:61-67.
5. Harper C, Hockey A. Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. Dev Med Child Neurol 1983;25:232-239.
6. Ibrahim A, Murthy P, Arunkalaivanan AS. A case of recurrent first-trimester Fowler syndrome. J Obstet Gynaecol 2007;27:201-202.
7. Laurichesse-Delmas H, Beaufrere AM, Martin A, et al. First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol 2002;20:612-615.
8. Mbakop A, Cox JN, Storman C, Delozier-Blancher CD. Lethal multiple pterygium syndrome: report of a new case with hydranencephaly. Am J Med Genet 1986;25:575-579.
9. Moeschler JB, Martin-Padilla M. Autosomal recessive encephaloclastic proliferative vasculopathy (hydrocephaly/hydranencepahly) (Abstr). Am J Hum Genet 1989;45(suppl):A55.
10. Norman MG, McGillivray B. Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia. Pediatr Neurosci 1988;14:301-306.
11. Usta IM, AbuMusa AA, Khoury NG, Nassar AH. Early ultrasonographic changes in Fowler syndrome features and review of the literature. Prenat Diagn 2005;25:1019-1023.
12. Witters I, Moerman PH, Devriendt K, et al. Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, Fowler type. Am J Med Genet 2002;108:41-44.
13. Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003;80:36-53.
14. EstroffJA, Scott MR, Benacerraf BR. Dandy-Walker variant: prenatal sonographic features and clinical outcome. Radiology 1992;185:755-758.
15. Ecker JL, Shipp TD, Bromley B, Becacerraf B. The sonographic diagnosis of Dandy-Walker and dandy-Walker variant: associated findings and outcomes. Prenat Diagn 2000;20:328-332.
16. Cardoso J, Lange MC, Lorenzoni PJ, et al. Dandy-Walker syndrome in adult mimicking myasthenia gravis. Arq Neoropsiquiatr 2007;65: 173-175.
17. Pascual-Castroviejo I, Velez A, Pascual-Pascaul SI, et al. Dandy-Walker malformation: analysis of 38 cases. Childs Nerv Syst 1991;7: 88-97.