[Familial blepharophimosis (author's transl)].
Copyright policy )[Familial blepharophimosis (author's transl)].
A typical case of familial blepharophimosis is reported. The genealogical tree is reviewed up to the third generation, finding a total of seven affected individuals, 40% of the studied patients. A nervous pattern in the E.N.G. of the facial nerve was found and its possible implication in the genesis of the facial features is discussed. In the genetic study, there was a normal cariotype, and in the genealogical tree a dominant autosomic transmission, without any evident difference in the transmission related to the primitively involved sex was observed.
Male, Facial Nerve, Child, Preschool, Karyotyping, Eyelid Diseases, Humans, Peripheral Nervous System Diseases, Genes, Dominant, Pedigree
Male, Facial Nerve, Child, Preschool, Karyotyping, Eyelid Diseases, Humans, Peripheral Nervous System Diseases, Genes, Dominant, Pedigree
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