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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1987 Aug;24(8):488–492. doi: 10.1136/jmg.24.8.488

Intrafamilial variation in Cohen syndrome.

I D Young 1, J R Moore 1
PMCID: PMC1050206  PMID: 3656371

Abstract

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.

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Selected References

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