RT Journal Article
SR Electronic
T1 Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 314
OP 317
DO 10.1136/jmg.18.4.314
VO 18
IS 4
A1 R M Winter
A1 A Garner
YR 1981
UL http://jmg.bmj.com/content/18/4/314.abstract
AB An infant presenting with hydrocephalus, pseudoencephalocele, agyria, and ocular defects, consisting of anterior chamber anomalies and retinal dysplasia, is reported. This is thought to be a further case of an autosomal recessive syndrome of which six cases have been previously described.