X-linked dysmorphic syndrome with mental retardation.
We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X-chromosome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002552:Cerebral Ventricles / Q000002:abnormalities; D005124:Eye Abnormalities; D005150:Facial Hemiatrophy / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007866:Leg / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D014960:X Chromosome