Intrafamilial variation in Cohen syndrome.
AUTOR(ES)
Young, I D
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050206Documentos Relacionados
- Growth hormone deficiency in a girl with the Cohen syndrome.
- Phenotypic variation in LADD syndrome.
- Intra-A-type variation of WPW syndrome.
- Contingent negative variation in adults with Gilles de la Tourette syndrome.
- Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.