X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.
نویسندگان
چکیده
AIMS To characterise the inheritance of ptosis in one particular pedigree. METHODS The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. RESULTS Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family. CONCLUSION A pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised-namely, X linked dominant congenital isolated bilateral ptosis.
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 85 1 شماره
صفحات -
تاریخ انتشار 2001