A new family with periventricular nodular heterotopia and peculiar dysmorphic features: A probable X-linked dominant trait

Sebastiano A. Musumeci, Raffaele Ferri, Maurizio Elia, Carmela Scuderi, Stefano Del Gracco, Gaetano Azan, Maria C. Stefanini

Research output: Contribution to journalArticlepeer-review

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 menial 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.

Original languageEnglish
Pages (from-to)61-64
Number of pages4
JournalArchives of Neurology
Volume54
Issue number1
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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