Microcephaly, Microphthalmia, Falciform Retinal Folds, and Blindness: A New Syndrome

Audre L. Jarmas, David D. Weaver, Forrest D. Ellis, Allen Davis

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause of this condition has been sought, but none has been identified. Possible modes of inheritance include autosomal dominant inheritance with variable expressivity, X-linked recessive inheritance with partial expression in the mother, or autosomal recessive inheritance that is etiologically unrelated to the mother’s microcephaly.

Original languageEnglish (US)
Pages (from-to)930-933
Number of pages4
JournalAmerican Journal of Diseases of Children
Volume135
Issue number10
DOIs
StatePublished - Oct 1981

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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