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A New Family With Periventricular Nodular Heterotopia and Peculiar Dysmorphic FeaturesA Probable X-linked Dominant Trait
Sebastiano A. Musumeci, MD;
Raffaele Ferri, MD;
Maurizio Elia, MD;
Carmela Scuderi, MD;
Stefano Del Gracco, MD;
Gaetano Azan, MD;
Maria C. Stefanini, MD
Arch Neurol. 1997;54(1):61-64.
Abstract
Objective
To describe 3 sisters with brain periventricular heterotopia and peculiar dysmorphic features as a probable X-linked dominant trait.
Design
Clinical, laboratory, neurophysiological, and brain imaging data were studied.
Setting
Research institute for mental retardation.
Patients
The 3 sisters had mental retardation, drug-resistant epilepsy, gray matter heterotopia, and peculiar malformations (low nasal bridge, upslanting palpebral fissures, palpebral edema, attached hypoplastic earlobes, thickened calvaria, rectal fibrovascular polyps, urinary tract anomalies, and increased foot length). The patients were 35, 30, and 25 years old and belonged to a sibship of 6, born of nonconsanguineous healthy parents.
Conclusion
The 3 patients constitute a well-defined clinical entity not previously described of a probable X-linked dominant nature.
Author Affiliations
From the Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
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