Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.
A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North-Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren-Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.
D000328:Adult; D000505:Alopecia / Q000235:genetics; D003241:Consanguinity; D004483:Ectropion / Q000235:genetics; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000151:congenital / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D013577:Syndrome