Intrafamilial variation in Cohen syndrome.

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 whic...

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

AIMS To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystr...

Cohen syndrome: case report.

A report of a child with Cohen syndrome is presented. Of particular interest to dentists are the relatively consistent findings of open mouth, short philtrum, micrognathia, and the prominent maxillary central incisors. A combination of these findings in addition to other traits such as hypotonicity, variable degrees of mental retardation, narrow hands and feet, childhood obesity, and delayed pu...

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus.

PURPOSE To evaluate the intrafamilial phenotypic variation in Stargardt macular dystrophy-Fundus flavimaculatus (SMD-FFM). METHODS Thirty-one siblings from 15 families with SMD-FFM were examined. Age of onset, visual acuity, and clinical features on fundus examination and fundus autofluorescence images, including presence or absence of central and peripheral atrophy and distribution of flecks...

Cohen syndrome Authors : Doctors Carlos