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

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

Research output: Contribution to journalArticle

25 Citations (Scopus)

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

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Microphthalmos
Microcephaly
Blindness
Mothers
X-Linked Genes
Intellectual Disability
Siblings
Parents

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Microcephaly, Microphthalmia, Falciform Retinal Folds, and Blindness : A New Syndrome. / Jarmas, Audre L.; Weaver, David; Ellis, Forrest D.; Davis, Allen.

In: American Journal of Diseases of Children, Vol. 135, No. 10, 1981, p. 930-933.

Research output: Contribution to journalArticle

Jarmas, Audre L. ; Weaver, David ; Ellis, Forrest D. ; Davis, Allen. / Microcephaly, Microphthalmia, Falciform Retinal Folds, and Blindness : A New Syndrome. In: American Journal of Diseases of Children. 1981 ; Vol. 135, No. 10. pp. 930-933.
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