title: [Acrocephaly, cranial asymmetry, brachydactyly, syndactyly, progressive senile dementia--a new type of acrocephalosyndactyly?].
abstract: Clinicogenetic assessment of a family whose six members proved to be carriers of an identical pathological trait allowed the delineation of the clinical picture of the hereditary disease described. Its major components include congenital cranial and facial abnormalities, malformed extremities characteristic of acrocephalosyndactyly, and a progressive pattern of psychic disturbances and higher cortical dysfunctions arising in old age. The first to come are increasing acoustic agnosia and disconnected delusions (stage of psychotic disorders) which are followed by progressive overall mental retardation with concomitant deactualization and disappearance of delusional feelings (stage of dementia). It has been suggested that cases of this kind make up a new (viz., the sixth) type of acrocephalosyndactyly with an autosomal dominant pattern of hereditary transmission. The mutant gene appears to be pleiotropic and characterized by complete penetrance and slightly varying expressivity.
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000328:Adult; D000368:Aged; D003704:Dementia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
vernacular_title: Akrotsefaliia, asimmetriia cherepa, brakhidaktiliia, sindaktiliia, progressiruiushchaia dementsiia pozdnego vozrasta--novyĭ tip akrotsefalosindaktilii?