A new family with periventricular nodular heterotopia and peculiar dysmorphic features. A probable X-linked dominant trait
S. A. Musumeci, R. Ferri, M. Elia, C. Scuderi, S. Del Gracco, G. Azan and M. C. Stefanini
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
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.
