Dobyns et al listed the criteria needed to diagnose patients with the Walker-Warburg Syndrome. The authors are from the Medical College of Wisconsin and other universities in the United States.


Inheritance: autosomal recessive


Key diagnostic features - all 4 should be present:

(1) type II lissencephaly (widespread agyria with scattered areas of macrogyria and/or polymicrogyria)

(2) cerebellar malformation

(3) retinal malformation

(4) congenital muscular dystrophy


Additional findings may include:

(1) ventricular dilatation

(2) anterior chamber malformations (corneal clouding, narrow iridocorneal angle, cataracts, total absence)

(3) cleft lip and/or palate

(4) congenital macro or microcephaly

(5) posterior cephalocele

(6) microopthalmia

(7) ocular coloboma

(8) congenital contractures

(9) genital anomalies in males

(10) Dandy-Walker malformation


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