[Late consequences in the ENT region following mid-facial fractures].
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A new genetic syndrome of the combined occurrence of hypogonadotropic hypogonadism, anosmia (Kallmann syndrome) and congenital mirror movements in four brothers is presented. Mirror movements were manifest only within the distal parts of the upper extremities and resembled congenital mirror movements described for isolated or familial cases or those occurring in combination with other genetic defects. The hypothesis is supported, that a midline fusion disorder with preponderance of uncrossed pyramidal tract fibers is a major pathogenetic factor for the occurrence of congenital mirror movements.
Although a large number of individuals experience olfactory disorders following accidents, disease states, medical interventions, aging, and exposure to environmental chemicals and pollutants, few medical practitioners have the expertise or staff to provide appropriate clinical evaluation, treatment, counseling, or referral for such patients. The present review examines studies associated with the diagnosis and treatment of olfactory disorders, as well as ones noting olfactory signs as diagnostic markers for brain tumors and other serious problems. A basic taxonomy of smell dysfunctions is presented, along with a review of etiologic factors, including local diseases and mechanical obstruction of the airways, viral infections, trauma, congenital anomalies, endocrine disorders, tumors, psychiatric disorders, aging, drugs, environmental and industrial pollutants, iatrogenic factors, and miscellaneous diseases. A discussion of current disability compensation guidelines in the United States and Britain is also presented.
The olfactory, auditory, and gustatory functions of 20 women with gonadal dysgenesis were studied. Various abnormalities of these functions were found, and they occurred principally in patients with mosaicism of the sex chromosomes. This is further evidence of the increased likelihood of various somatic abnormalities among women with gonadal dysgenesis, and particularly among those who carry more than one line of sex chromosomes.
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On the basis of the study and particularly of the examination of the ofactive functions in three patients with hypogonadismus the relationship between the olfactive and the endocrine lesions is established. This syndrome, described by Kalmann and by De Morsier is not well known, but it deserves attention since it is indicative of pathologic changes in the region which lies between the hypothalamus and the hypophysis.
Monozygotic twin sisters developed Parkinson's disease and anosmia at the age of 39. The disease was kept under control and regressed with L. Dopa. Two families with the same association had been previously reported. An anomaly of the metabolism of dopamine, genetically determined, is probably responsible for these disorders.
Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia. A full family history is necessary for it is possible to detect heterozygous carriers of the defect by enzyme studies on fibroblast cultures.
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