- Autosomal recessive (25%
recurrence rate).
- Pathogenesis has been
attributed to failure of neuronal migration at the 40-60 day embryonic
stage.
- The ocular anomalies appear
to be almost universal and typical, and when present in the presence of
specific cranial abnormalities make antenatal diagnosis possible in the
absence of a family history. However the eye abnormalities may not be
evident until the third trimester (2), although pathologically they have
been shown to be present in the second trimester (3).
·
Type II Lissencephaly.
·
Cerebellar malformation (polymicrogyria, afoliar
surface of cerebellar hemisphere, inferior vermian dysgenesis).
·
Retinal malformations.
·
Microphthalmia (38%).
·
Congenital muscular dystrophy.
·
Associated anomalies;
o
Ventriculomegaly (95%).
o
Macrocephaly (58%).
o
Microcephaly (14%).
o
Cleft lip and / or palate.
o
Malformation of the anterior chamber of the eye 76% (retinal non attachment)
o
Congenital cataracts.
o
Occipital encephalocele (40%).
o
Dandy-Walker malformation (53%).
o
Congenital cataracts (35%).
o
Ocular colobomas (20%).
- Dobyns WB, Pagon RA, Armstrong
D et.al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet
1989;32:195-210.
- Vohra N, Ghidini A, Alvarez M
et.al. Walker-Warburg Syndrome: Prenatal ultrasound findings. Prenat Diagn
1993;13:575-579.
- Maynor CH, Hertzberg BS,
Ellington KS. Antenatal sonographic features of Walker-Warburg syndrome.
Value of endovaginal sonography. J Ultrasound Med 1992;11:301-303.