منابع مشابه
CT and MRI findings in X-linked progressive deafness.
Congenital X-linked mixed deafness is a rare anomaly that has typical features and can be diagnosed on the basis of progressive mixed hearing loss and the typical imaging findings. Recognition of these findings may alter the course of treatment and perilymph gushing can be avoided. A 10-year-old male patient presented with a history of progressive hearing loss. Computed tomography of the tempor...
متن کاملCongenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported...
متن کاملAdams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
متن کاملFamilial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.
We present a family in which at least four persons have evidence of an inherited disorder comprising a variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and a progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger's disease) were found on renal renal biopsy in two affected persons. The ...
متن کاملFamilial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness.
Wolfram (1938) published a report from the Mayo Clinic concerning the incidence of diabetes mellitus and optic atrophy in four siblings. He commented that "an aetiological relationship between diabetes mellitus and simple progressive optic atrophy is by no means well established". During the ensuing years other families have been described, members ofwhich have shown a similar association betwe...
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ژورنال
عنوان ژورنال: The Journal of the Acoustical Society of America
سال: 1954
ISSN: 0001-4966
DOI: 10.1121/1.1917793