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[Familial blepharophimosis (author's transl)]. 1976

M Nieto Barrera, and M Rufo Campos, and M Tomás Pérez, and R C Fernández-Mensaque

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.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010523 Peripheral Nervous System Diseases Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. Peripheral Nerve Diseases,Peripheral Neuropathies,PNS (Peripheral Nervous System) Diseases,PNS Diseases,Peripheral Nervous System Disease,Peripheral Nervous System Disorders,Nerve Disease, Peripheral,Nerve Diseases, Peripheral,Neuropathy, Peripheral,PNS Disease,Peripheral Nerve Disease,Peripheral Neuropathy
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005141 Eyelid Diseases Diseases involving the EYELIDS. Disease, Eyelid,Diseases, Eyelid,Eyelid Disease
D005154 Facial Nerve The 7th cranial nerve. The facial nerve has two parts, the larger motor root which may be called the facial nerve proper, and the smaller intermediate or sensory root. Together they provide efferent innervation to the muscles of facial expression and to the lacrimal and SALIVARY GLANDS, and convey afferent information for TASTE from the anterior two-thirds of the TONGUE and for TOUCH from the EXTERNAL EAR. Cranial Nerve VII,Marginal Mandibular Branch,Marginal Mandibular Nerve,Seventh Cranial Nerve,Nerve VII,Nerve of Wrisberg,Nervus Facialis,Nervus Intermedius,Nervus Intermedius of Wrisberg,Cranial Nerve VIIs,Cranial Nerve, Seventh,Facial Nerves,Mandibular Nerve, Marginal,Mandibular Nerves, Marginal,Marginal Mandibular Nerves,Nerve VIIs,Nerve, Facial,Nerve, Marginal Mandibular,Nerve, Seventh Cranial,Nerves, Marginal Mandibular,Nervus Faciali,Seventh Cranial Nerves,Wrisberg Nerve,Wrisberg Nervus Intermedius
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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