A new family with periventricular nodular heterotopia and peculiar dysmorphic features. A probable X-linked dominant trait.
OBJECTIVE
To describe 3 sisters with brain periventricular heterotopia and peculiar dysmorphic features as a probable X-linked dominant trait.


METHODS
Clinical, laboratory, neurophysiological, and brain imaging data were studied.


METHODS
Research institute for mental retardation.


METHODS
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.


CONCLUSIONS
The 3 patients constitute a well-defined clinical entity not previously described of a probable X-linked dominant nature.
Musumeci
S A
SA
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
Ferri
R
R
Elia
M
M
Scuderi
C
C
Del Gracco
S
S
Azan
G
G
Stefanini
M C
MC
D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014960:X Chromosome