Familial schizencephaly: further delineation of a rare disorder.
نویسندگان
چکیده
منابع مشابه
Familial schizencephaly: further delineation of a rare disorder.
We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizenceph...
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Schizencephaly is a rare malformation of the central nervous system defined as a gray matter-lined cleft filled with cerebrospinal fluid that extends from the pial surface to the ventricle. Few cases of association with psychosis were reported in the scientific literature. We present a case of a 46-year-old woman, admitted into a psychiatric hospital with crises of psychomotor agitation, disorg...
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Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further children from two unrelated Arab families from two different tribes. Both presented at birth with hypotonia, joint laxity, kyphosis, wrist drop, sp...
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An 820 g, 28 week , small-for-gestational-age boy was born after an uneventful but shortened pregnancy. At birth , the circumference of the infant's head (23 cm) was well below the third percentile. Transillumination of the skull was increased over the parietotemporal areas bilaterally. Initially, he had minimal spontaneous movements, little response to stimulation, absent suck reflex , minimal...
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Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with psychosis have been reported in the literature. A patient of schizencephaly, who had bipolar affective disorder i...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.3.242