To the Editor.—
Chan et al (Archives 1980;37:105-108) proposed that infection was etiologic in producing eye and brain anomalies in a 5-day-old male infant who had microphthalmia, retinal detachment, retinal dysplasia and agyria, absent cortical laminar structure, absent cerebellar folia, delated lateral and third ventricles, gliosis, and leptomeningeal glial heterotopias. We described two siblings with eye and brain anomalies1 that were nearly identical to those described by Chan et al. We used the mnemonic HARD ± E to describe the major features; H indicating hydrocephalus, A, agyria and absent cortical laminar structure, RD, retinal dysplasia, with or without E, encephalocele. Autosomal recessive inheritance seemed likely and was supported by the observation of similar eye and brain anomalies in three of seven siblings from a consanguineous marriage.2In 1971, Warburg first suggested a genetic etiology for the association of hydrocephalus, congenital retinal nonattachment with or without microphthalmia in 12 patients
Pagon RA, Clarren S. HARD ± E: Warburg's Syndrome. Arch Neurol. 1981;38(1):66. doi:10.1001/archneur.1981.00510010092024
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