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BFLS is an uncommon, syndromic form of X-linked mental retardation.
Males are predominantly affected but milder manifestations may be seen in females.
Pregnancy and birth weight are normal but feeding problems and hypotonia are common in infancy.
Developmental delay is evident early; later intellectual handicap is mild to moderate.
Major physical features are large, fleshy earlobes, foreshortened toes and small genitalia.
Gynaecomastia, truncal obesity, tapered fingers and some coarsening of facial features emerge through childhood and adolescence.
Mutations in the zinc finger gene PHF6 are the cause of BFLS.
There is no evidence for genetic heterogeneity of BFLS.
Function of the PHF6 protein and molecular pathogenesis of BFLS is not known.
Management is symptomatic. Genetic counseling is indicated.
dx.doi.org/10.1038/sj.ejh...
Males are predominantly affected but milder manifestations may be seen in females.
Pregnancy and birth weight are normal but feeding problems and hypotonia are common in infancy.
Developmental delay is evident early; later intellectual handicap is mild to moderate.
Major physical features are large, fleshy earlobes, foreshortened toes and small genitalia.
Gynaecomastia, truncal obesity, tapered fingers and some coarsening of facial features emerge through childhood and adolescence.
Mutations in the zinc finger gene PHF6 are the cause of BFLS.
There is no evidence for genetic heterogeneity of BFLS.
Function of the PHF6 protein and molecular pathogenesis of BFLS is not known.
Management is symptomatic. Genetic counseling is indicated.
dx.doi.org/10.1038/sj.ejh...
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Jul 24, 2012