This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Roberta A. Pagon, MD
Department of Pediatrics and Ophthalmology

Sterling Clarren, MD
Department of Pediatrics University of Washington School of Medicine Children's Orthopedic Hospital and Medical Center 4800 Sand Point Way NE Seattle, WA 98105

Arch Neurol. 1981;38(1):66.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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.²

In 1971, Warburg first suggested a genetic etiology for the association of hydrocephalus, congenital retinal nonattachment with or without microphthalmia in 12 patients . . . [Full Text PDF of this Article]

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?