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Hereditary Congenital Deafness With Onychodystrophy

Hereditary Congenital Deafness With Onychodystrophy Abstract THERE ARE numerous genetic syndromes involving deafness associated with various dermatological conditions.1 In 1961 Feinmesser and Zelig2 first reported two sisters with congenital deafness and onychodystrophy. This combination of defects was transmitted as an autosomal recessive. To the best of our knowledge no other family with such a disorder has since been recorded. The purpose of this report is to describe and to discuss a family with similar findings, but having a different mode of inheritance. Report of Cases The proband is a 61-year-old white woman who was hospitalized at Orange County Medical Center in April 1968 with symptoms of congestive heart failure. Past history, physical examination, and various diagnostic procedures including cardiac catheterization supported the diagnosis of rheumatic heart disease with mitral stenosis.Further information revealed that the patient was born deaf and had abnormalities of the nails. In addition to her classical physical findings of congestive References 1. Reed, W.B., et al: Hereditary Syndromes With Auditory and Dermatological Manifestations , Arch Derm 95:456-461 ( (May) ) 1967.Crossref 2. Feinmesser, M., and Zelig, S.: Congenital Deafness Associated With Onychodystrophy , Arch Otolaryng 74:507-508 ( (Nov) ) 1961.Crossref 3. Silverman, M.E.; Goodman, R.M.; and Cuppage, F.E.: The Nail-Patella Syndrome: Clinical Findings and Ultrastructural Observations in the Kidney , Arch Intern Med 120:68-74 ( (July) ) 1967.Crossref 4. Robinson, G.C.; Miller, J.R.; and Bensimon, J.R.: Familial Ectodermal Dysplasia With Sensory-Neural Deafness and Other Anomalies , Pediatrics 30:797-802 ( (Nov) ) 1962. 5. Helwig-Larsen, H.F., and Ludvigsen, K.: Congenital Familial Anhidrosis and Neurolabyrinthitis , Acta Dermatovener 26:489-505 ( (May) ) 1946. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology American Medical Association

Hereditary Congenital Deafness With Onychodystrophy

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References (5)

Publisher
American Medical Association
Copyright
Copyright © 1969 American Medical Association. All Rights Reserved.
ISSN
0003-9977
DOI
10.1001/archotol.1969.00770030476012
Publisher site
See Article on Publisher Site

Abstract

Abstract THERE ARE numerous genetic syndromes involving deafness associated with various dermatological conditions.1 In 1961 Feinmesser and Zelig2 first reported two sisters with congenital deafness and onychodystrophy. This combination of defects was transmitted as an autosomal recessive. To the best of our knowledge no other family with such a disorder has since been recorded. The purpose of this report is to describe and to discuss a family with similar findings, but having a different mode of inheritance. Report of Cases The proband is a 61-year-old white woman who was hospitalized at Orange County Medical Center in April 1968 with symptoms of congestive heart failure. Past history, physical examination, and various diagnostic procedures including cardiac catheterization supported the diagnosis of rheumatic heart disease with mitral stenosis.Further information revealed that the patient was born deaf and had abnormalities of the nails. In addition to her classical physical findings of congestive References 1. Reed, W.B., et al: Hereditary Syndromes With Auditory and Dermatological Manifestations , Arch Derm 95:456-461 ( (May) ) 1967.Crossref 2. Feinmesser, M., and Zelig, S.: Congenital Deafness Associated With Onychodystrophy , Arch Otolaryng 74:507-508 ( (Nov) ) 1961.Crossref 3. Silverman, M.E.; Goodman, R.M.; and Cuppage, F.E.: The Nail-Patella Syndrome: Clinical Findings and Ultrastructural Observations in the Kidney , Arch Intern Med 120:68-74 ( (July) ) 1967.Crossref 4. Robinson, G.C.; Miller, J.R.; and Bensimon, J.R.: Familial Ectodermal Dysplasia With Sensory-Neural Deafness and Other Anomalies , Pediatrics 30:797-802 ( (Nov) ) 1962. 5. Helwig-Larsen, H.F., and Ludvigsen, K.: Congenital Familial Anhidrosis and Neurolabyrinthitis , Acta Dermatovener 26:489-505 ( (May) ) 1946.

Journal

Archives of Otolaryngology – American Medical Association

Published: Oct 1, 1969

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