[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.
D002675:Child, Preschool; D005141:Eyelid Diseases / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005154:Facial Nerve; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications
Blefarofimosis familiar