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A Case of Keratitis, Ichthyosis and Deafness(KID) Syndrome

Kim L, Lee DH

  • KMID: 2335784
  • J Korean Pediatr Soc.
  • 2003 Nov;46(11):1135-1138.
KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who...
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A case of Pure Word Deafness

Kim BJ, Park MK, Park KW, Lee DH

  • KMID: 2342489
  • J Korean Neurol Assoc.
  • 1995 Jun;13(2):353-361.
Pure word deafness is a cluucal syndrome included among the aphasias and is marked by complete deafness of sudden onset with conserved ability to understand and read the written word...
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Shim YS, Choi W, Hwang IT, Yang S

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who...
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Congenital Deafness associated with Piebaldism

Kim SM, Lee SM, Kim EK

  • KMID: 1891573
  • Korean J Dermatol.
  • 1996 Apr;34(2):304-308.
Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf...
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A Case of Pure Word Deafness in MELAS Syndrome

Shin DS, Kwon OS, Lee HO, Youn YC

  • KMID: 2137946
  • J Korean Neurol Assoc.
  • 2004 Oct;22(5):520-523.
An 18-year-woman was referred with seizure activity and global aphasia. Diagnosis of MELAS syndrome with left temporo-parieto-occipital infarction was confirmed by gene analysis. Global aphasia was improved completely. Right temporal...
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A Case of Anterior Lenticonus in Alport's Syndrome

Lee HL, Rhee MR, Shim YB, Kim BC

  • KMID: 1949303
  • J Korean Ophthalmol Soc.
  • 1989 Apr;30(2):305-309.
Alport's syndrome, first described by Alport in 1927, is a clinical entity which consists of lens abnormalities, hereditary hemorrhagic nephritis and nerve deafness. Anterior lenticonus is a rare structual anomaly...
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Effect of Etiologic Factors on Prognosis of Hearing Recovery in Sudden Deafness

Han DH, Kim HJ

  • KMID: 2074452
  • Korean J Otolaryngol-Head Neck Surg.
  • 2002 Oct;45(10):936-941.
BACKGROUND AND OBJECTIVES: There are lots of debates regarding the prognostic factors in sudden deafness patients. The aim of this study is to identify prognostic factors that might be associated...
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Sudden Deafness with Vertigo as a Sole Manifestation of Anterior Inferior Cerebellar Artery Infarction

Lee H, Ahn BH

  • KMID: 2343118
  • J Korean Neurol Assoc.
  • 2004 Dec;22(6):643-645.
Although sudden deafness occurs with anterior inferior cerebellar artery infarction, the deafness is usually associated with other brainstem or cerebellum sign such as crossed sensory loss, lateral gaze palsy, facial...
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A Case of Cochlear Implantation in Bromate-Induced Bilateral Sudden Deafness

Eom TH, Lee S, Cho HH, Cho YB

Despite the well-established nature of bromate-induced ototoxicity, cochlear implantation after bromate intoxication has been rarely documented. We hereby present a case of a 51-year-old female deafened completely after bromate ingestion....
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A case of maternally inherited diabetes and deafness with rhabdomyolysis

Lee KH, Kim SE, Kim KY, Youn JW, Park SS, Yoo SH, Chung SC

  • KMID: 2081666
  • Korean J Med.
  • 2009 Apr;76(Suppl 1):S112-S116.
mutation at position 3,243 in the mtDNA-encoded tRNALeu (UUR) gene is associated with the syndrome of maternally inherited diabetes and deafness (MIDD). It is a rare form of diabetes...
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Clinical Observation of Sudden Deafness in Children

Chon KM, Goh EK, Lee IW, Cho KS

  • KMID: 1610876
  • Korean J Otolaryngol-Head Neck Surg.
  • 2002 May;45(5):456-461.
BACKGROUND AND OBJECTIVES: Sudden deafness in children is rare and comprises less than 10% of all sudden deafness. Viral infection is more common and early treatment is less common in...
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Sudden Deafness Concurrent with Ipsilateral Benign Paroxysmal Positional Vertigo

Kim YH, Lee DK, Seok JI

  • KMID: 1452114
  • Res Vestib Sci.
  • 2011 Jun;10(2):74-76.
Benign paroxysmal positional vertigo (BPPV) is a disorder caused by otoconia in the inner ear. Its symptoms are repeated episodes of positional vertigo, that is, of a spinning sensation caused...
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A Case of Epstein's Syndrome

Choi SY, Chae HC, Cho HY, Kim HB, Oh JS

  • KMID: 2208423
  • J Korean Pediatr Soc.
  • 1994 Nov;37(11):1610-1614.
Epstein's syndrome is a rare disease whish is characterized by the association of thrombocytopenia, macrothrombocytopathia, nephritis and deafness. We experienced a case of Epstein's syndrome in a 12 years old...
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A Case of MELAS with Maternally Transmitted Type II Diabetes Mellitus and Deafness

Yu HJ, Roh SY, Lee KE, Koh SH

  • KMID: 2343269
  • J Korean Neurol Assoc.
  • 2007 Aug;25(3):416-418.
MELAS syndrome is typically a multisystemic disorder. We report one case of MELAS showing both maternally transmitted type II diabetes mellitus (DM) and deafness. A 41-year-old woman was admitted because...
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Brainstem auditory evoked potential findings in a French bulldog with bilaterally congenital sensorineural deafness

An D, Jung DI, Kim HJ, Kang JH, Chang DW, Yang MP, Kang BT

  • KMID: 1790576
  • Korean J Vet Res.
  • 2013 Dec;53(4):265-267.
A 3-month-old, intact male French bulldog was suspected of deafness. The dog was irresponsive to environmental noises generated out of sight, but normal responses were noted for visual stimuli. No...
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Waardenburg's Syndrome in Son and Mother

Choi SJ, Kim KS, Yu HJ, Sohn SJ

  • KMID: 1679607
  • Korean J Dermatol.
  • 1986 Aug;24(4):563-566.
We report a case of Waardenburgs syndrome in 18-year-old male patient who has total deafness of the right ear, heterochromia irides, hypopigmented patches on the face and trunk, and disseminated...
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A case of pure word deafness

Sung SM, Kim SH, Park KH

  • KMID: 2442965
  • J Korean Neurol Assoc.
  • 1997 Apr;15(2):377-381.
Pure word deafness refers to an inability to understand spoken language with relatively normal reading, writing and speaking as well as comprehension of nonverbal sounds. We report a case of...
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A clinical survey of prolonged Q-T syndrome among Korean children with congenital deafness

Lee KW, Kim KB, Son CS, Lee JW, Tocko YC

  • KMID: 1945905
  • J Korean Pediatr Soc.
  • 1993 Sep;36(9):1236-1244.
The clinical symptom complex characterized by syncopal attacks and sudden death in patients with electrocardiographic anomalies, especially a prolonged Q-T interval is known as the Romano-Ward syndrome. When a similar...
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Pendred's Syndrome

Kim OY

1) Pendred's syndrome is very rare disease in western countries, although 5% of all case of congenital deafness by Pendred's syndrome, and until not reported in Korea. 2) Pendred's syndrome, believed...
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Osteogenesis Imperfecta

Ahn JC, Kim ID, Ihin JC

Osteogenesis Imperfecta is a rare affection characterized by fragility of the bones, blue sclerae, and deafness, less frequently by hypermobility of the joints. The etiology is unknown, but it appears...
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