[New variant of a rare neurocutaneous syndrome].
Rare unusual syndromes of hereditary pathology are the most frequent in inbred families. The authors present a clinico-genealogical description of an inbred family in which the neurocutaneous syndrome was observed in four sibs. The syndrome consisted in combination of ichthyosis with spastic paraparesis which manifested itself in the presence of normal body height and a good intellectual level. In two nephews of the diseases a spastic paraparesis was suspected. The syndrome described cannot be placed into the limits of known disease entities and should be regarded as a new variant of the neurocutaneous syndrome. The family is subject to further observation.
D000328:Adult; D003241:Consanguinity; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
O novom variante redkogo neĭro-kozhnogo sindroma.