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BibTex RIS Kaynak Göster

Audiological Findings in Wolf Hirschhorn Syndrome: A Case Report

Yıl 2022, Cilt: 7 Sayı: 3, 987 - 992, 30.12.2022
https://doi.org/10.47115/jshs.1183343

Öz

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder clinically characterized by prenatal and postnatal growth deficiency, distinctive craniofacial features, mental retardation, and seizures. The disease is caused by partial loss of the distal part of the short arm of chromosome 4. Although hearing loss has been reported in individuals with WHS in the literature, sensorineural hearing loss is rare. In this article, it is aimed to give information about hearing loss and rehabilitation with a hearing aid in a patient with WHS who has sensorineural hearing loss.

Kaynakça

  • Battaglia, A., Carey, J. C., & South, S. T. (2015). Wolf–Hirschhorn syndrome: A review and update. Paper presented at the American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
  • Battaglia, A., Filippi, T., & Carey, J. C. (2008). Update on the clinical features and natural history of Wolf–Hirschhorn (4p‐) syndrome: Experience with 87 patients and recommendations for routine health supervision. Paper presented at the American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
  • Battaglia, A., Filippi, T., South, S. T., & Carey, J. C. (2009). Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients. Developmental Medicine & Child Neurology, 51(5), 373-380.
  • Flipsen-ten Berg, K., Van Hasselt, P. M., Eleveld, M. J., van der Wijst, S. E., Hol, F. A., de Vroede, M. A., . . . Poot, M. (2007). Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome. European Journal of Human Genetics, 15(11), 1132-1138.
  • Hereditary Hearing Loss Homepage. (2022). Retrieved from https://hereditaryhearingloss.org/
  • Lesperance, M. M., Grundfast, K. M., & Rosenbaum, K. N. (1998). Otologic manifestations of Wolf-Hirschhorn syndrome. Archives of Otolaryngology–Head & Neck Surgery, 124(2), 193-196.
  • Mekkawy, M. K., Kamel, A. K., Thomas, M. M., Ashaat, E. A., Zaki, M. S., Eid, O. M., . . . ElAwady, H. (2021). Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature. Molecular Genetics & Genomic Medicine, 9(2), e1546.
  • Morton, C. C., & Nance, W. E. (2006). Newborn hearing screening—a silent revolution. New England Journal of Medicine, 354(20), 2151-2164.
  • Sakuma, N., Moteki, H., Takahashi, M., Nishio, S.-y., Arai, Y., Yamashita, Y., . . . Usami, S.-i. (2016). An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. Journal of human genetics, 61(3), 253-261.
  • Ulualp, S. O., Wright, C. G., Pawlowski, K. S., & Roland, P. S. (2004). Histopathological Basis of Hearing Impairment in Wolf‐Hirschhorn Syndrome. The Laryngoscope, 114(8), 1426-1430.
  • Xiang, Y. B., Xu, C. Y., Xu, Y. Z., Li, H. Z., Zhou, L. L., Xu, X. Q., . . . Tang, S. H. (2020). Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss. Molecular Genetics & Genomic Medicine, 8(12), e1539.
  • Yönü, İ. K. G. (2012). Türkiye'deki Görünümü. Turkiye Klinikleri J ENT-Special Topics, 5(2), 15-20.

WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU

Yıl 2022, Cilt: 7 Sayı: 3, 987 - 992, 30.12.2022
https://doi.org/10.47115/jshs.1183343

Öz

Wolf-Hirschhorn sendromu (WHS), klinik olarak doğum öncesi ve doğum sonrası büyüme eksikliği, ayırt edici kraniyofasiyal özellikler, mental retardasyon ve nöbetlerle tanımlanan bitişik bir gen bozukluğudur. Hastalığa 4. kromozomun kısa kolunun distal kısmında oluşan kısmi kayıp neden olur. Literatürde WHS'li bireylerde işitme kaybı bildirilmiş olmasına rağmen, sensörinöral işitme kaybı nadirdir. Bu makalede sensörinöral işitme kaybı mevcut olan WHS’li hastanın işitme kaybı ve işitme cihazı ile rehabilitasyonu hakkında bilgi vermek amaçlanmıştır.

Kaynakça

  • Battaglia, A., Carey, J. C., & South, S. T. (2015). Wolf–Hirschhorn syndrome: A review and update. Paper presented at the American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
  • Battaglia, A., Filippi, T., & Carey, J. C. (2008). Update on the clinical features and natural history of Wolf–Hirschhorn (4p‐) syndrome: Experience with 87 patients and recommendations for routine health supervision. Paper presented at the American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
  • Battaglia, A., Filippi, T., South, S. T., & Carey, J. C. (2009). Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients. Developmental Medicine & Child Neurology, 51(5), 373-380.
  • Flipsen-ten Berg, K., Van Hasselt, P. M., Eleveld, M. J., van der Wijst, S. E., Hol, F. A., de Vroede, M. A., . . . Poot, M. (2007). Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome. European Journal of Human Genetics, 15(11), 1132-1138.
  • Hereditary Hearing Loss Homepage. (2022). Retrieved from https://hereditaryhearingloss.org/
  • Lesperance, M. M., Grundfast, K. M., & Rosenbaum, K. N. (1998). Otologic manifestations of Wolf-Hirschhorn syndrome. Archives of Otolaryngology–Head & Neck Surgery, 124(2), 193-196.
  • Mekkawy, M. K., Kamel, A. K., Thomas, M. M., Ashaat, E. A., Zaki, M. S., Eid, O. M., . . . ElAwady, H. (2021). Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature. Molecular Genetics & Genomic Medicine, 9(2), e1546.
  • Morton, C. C., & Nance, W. E. (2006). Newborn hearing screening—a silent revolution. New England Journal of Medicine, 354(20), 2151-2164.
  • Sakuma, N., Moteki, H., Takahashi, M., Nishio, S.-y., Arai, Y., Yamashita, Y., . . . Usami, S.-i. (2016). An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. Journal of human genetics, 61(3), 253-261.
  • Ulualp, S. O., Wright, C. G., Pawlowski, K. S., & Roland, P. S. (2004). Histopathological Basis of Hearing Impairment in Wolf‐Hirschhorn Syndrome. The Laryngoscope, 114(8), 1426-1430.
  • Xiang, Y. B., Xu, C. Y., Xu, Y. Z., Li, H. Z., Zhou, L. L., Xu, X. Q., . . . Tang, S. H. (2020). Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss. Molecular Genetics & Genomic Medicine, 8(12), e1539.
  • Yönü, İ. K. G. (2012). Türkiye'deki Görünümü. Turkiye Klinikleri J ENT-Special Topics, 5(2), 15-20.
Toplam 12 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Olgu Sunumu
Yazarlar

Asuman Küçüköner 0000-0002-4369-727X

Ömer Küçüköner 0000-0002-0262-5093

Erken Görünüm Tarihi 28 Aralık 2022
Yayımlanma Tarihi 30 Aralık 2022
Gönderilme Tarihi 5 Ekim 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 7 Sayı: 3

Kaynak Göster

APA Küçüköner, A., & Küçüköner, Ö. (2022). WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU. Samsun Sağlık Bilimleri Dergisi, 7(3), 987-992. https://doi.org/10.47115/jshs.1183343
AMA Küçüköner A, Küçüköner Ö. WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU. JSHS. Aralık 2022;7(3):987-992. doi:10.47115/jshs.1183343
Chicago Küçüköner, Asuman, ve Ömer Küçüköner. “WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU”. Samsun Sağlık Bilimleri Dergisi 7, sy. 3 (Aralık 2022): 987-92. https://doi.org/10.47115/jshs.1183343.
EndNote Küçüköner A, Küçüköner Ö (01 Aralık 2022) WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU. Samsun Sağlık Bilimleri Dergisi 7 3 987–992.
IEEE A. Küçüköner ve Ö. Küçüköner, “WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU”, JSHS, c. 7, sy. 3, ss. 987–992, 2022, doi: 10.47115/jshs.1183343.
ISNAD Küçüköner, Asuman - Küçüköner, Ömer. “WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU”. Samsun Sağlık Bilimleri Dergisi 7/3 (Aralık 2022), 987-992. https://doi.org/10.47115/jshs.1183343.
JAMA Küçüköner A, Küçüköner Ö. WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU. JSHS. 2022;7:987–992.
MLA Küçüköner, Asuman ve Ömer Küçüköner. “WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU”. Samsun Sağlık Bilimleri Dergisi, c. 7, sy. 3, 2022, ss. 987-92, doi:10.47115/jshs.1183343.
Vancouver Küçüköner A, Küçüköner Ö. WOLF HİRSCHHORN SENDROMUNDA ODYOLOJİK BULGULAR: OLGU SUNUMU. JSHS. 2022;7(3):987-92.

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