Intrafamilial variation in Cohen syndrome.
Three sibs with Cohen syndrome are presented. Abnormalities present in all three children include mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. The older two sibs have a similar facies and an engaging personality. The youngest child shows a different facial appearance and marked behavioural problems, thereby illustrating the intrafamilial variability which may occur in this disorder.
Young
I D
ID
Department of Child Health, University of Leicester.
Moore
J R
JR
D000293:Adolescent; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D013577:Syndrome