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A New Syndrome

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

Am J Dis Child. 1981;135(10):930-933.

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.

(Am J Dis Child 1981;135:930-933)

Author Affiliations
From the Departments of Medical Genetics (Ms Jarmas and Dr Weaver) and Ophthalmology (Drs Ellis and Davis), Indiana University School of Medicine, Indianapolis.

Footnotes
Reprint requests to Department of Medical Genetics, Indiana University School of Medicine, 1100 W Michigan St, Indianapolis, IN 46223 (Dr Weaver).

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