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endocardial fibroelastosis/seizures
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4 risultati
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly.
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We describe two brothers with endocardial fibroelastosis, unusual facial appearance, and cryptorchidism. The surviving brother has mental retardation, seizures and possible hypothalamic dysfunction. Both brothers have a head size greater than two standard deviations above normal; this appears to be
Faciocardiorenal syndrome: a wide clinical spectrum?
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Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.
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We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the
X-chromosome monosomy in the myelin-deficient rat mutant.
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We have identified three examples of female Wistar rats exhibiting the tremor and seizures characteristic of the X-linked myelin deficiency (md) mutation, which is ordinarily seen only in males. Cytogenetic study of two of these animals has shown them to have 41 chromosomes instead of the normal 42.
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