SavedAdd your journal

Journals / MN Oftalmoloji / 2010 / Cilt: 17 - Sayı: 3

Three cases with goldenhar syndrome

Goldenhar sendromlu üç olgu

Işılay KAVADARLI
Serpil AKAR
Birsen GÖKYİĞİT
Ö. Faruk YILMAZ
Pages
184–187
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In these cases recommendation of genetic counselor to the families for healthy individuals of next generations seems to be necessary.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Goldenhar syndrome (GS) is a developmental disorder which involves the first and the second branchial arches and characterized by considerable phenotypic variability.
📊
Key Findings & Data:In this study, three patients’, who were clinically diagnosed and between the ages of 2-3, morphological features, ear, eye, orthopedic, cardiovascular, genitourinary and gastrointestinal systems were evaluated and determined clinical data were announced.
💡
Conclusion & Impact:In these cases recommendation of genetic counselor to the families for healthy individuals of next generations seems to be necessary.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Mandibulofasiyal disostozis · Çocuk · okul öncesi

Abstract

Goldenhar syndrome (GS) is a developmental disorder which involves the first and the second branchial arches and characterized by considerable phenotypic variability. In this study, three patients’, who were clinically diagnosed and between the ages of 2-3, morphological features, ear, eye, orthopedic, cardiovascular, genitourinary and gastrointestinal systems were evaluated and determined clinical data were announced. As a result, early diagnosis of GS, detailed examination, surgical intervention in appropriate cases, careful follow up will reduce complications in many organs and systems. In these cases recommendation of genetic counselor to the families for healthy individuals of next generations seems to be necessary.

Özet

Goldenhar sendromu (GS), insan embriyosunun boyun kısmındaki birinci ve ikinci kavisi tutan, önemli derecede fenotipik değişkenlikler gösterebilen, gelişimsel bir bozukluktur. Bu çalışmada, GS’nun klinik tanısını alan 2-3 yaşları arasındaki üç hastanın morfolojik özellikleri, kulak, göz ortopedik, nörolojik, kardiyovasküler, genitoüriner ve gastrointestinal sistemleri değerlendirilerek, tespit edilen klinik veriler açıklandı. Sonuç olarak, GS düşünülen hastaların erken tanısı, ayrıntılı muayenesi, gerekli durumlarda cerrahi müdahale uygulanması ve disiplinli bir şekilde takibi, vücudun pek çok organ ve sisteminde oluşabilecek komplikasyonları büyük ölçüde azaltacağı belirlendi. Bu olgularda aileye genetik danışman tavsiye edilmesinin de, gelecek nesillerin sağlıklı bireyler olarak doğmalarını sağlamak açısından son derece gerekli olduğunu düşünmekteyiz

🔖

Cite This Article

KAVADARLI, I., AKAR, S., GÖKYİĞİT, B., YILMAZ, Ö. F. (2010). Three cases with goldenhar syndrome. MN Oftalmoloji, Cilt: 17 - Sayı: 3, 184–187. https://ajindex.com/articles/295800

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (10)

  1. Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou–Tzeli S. Clinical manifestations in 17 greek patients with goldenhar syndrome. Genetic Counseling 2006; 17:359-70
  2. Cousley R.R.J, Wilson D.J. Hemifacial microsomia: Develepmental consequence of perturbation of the auriculofacial cartilage model. Am J Med Genet 1992; 42:461-6
  3. Cassidy S.B, Allanson J.E. Oculo-ariculovertebral spectrum. In: Management of Genetic Syndromes. New York: John Wiley–Liss, 2000; 269-79
  4. Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 1985; 15:555-9
  5. Grow AS. Dermoid. In: Fraunfelder FT, Roy FH, editors. Current Ocular Therapy. Philadelphia: WB Saunders, 1995; 233
  6. Johnston MC, Morris GM, Kushner DC, Bingle GJ. Abnormal organogenesis of facial structures. In: Wilson JG, Fraser FC, editors. Handbook of Teratology. New York: Plenum Pres, 1977; 421-51
  7. Margolis S, Siegel IM. The tilted disc syndromein craniofacial diseases. In: Smith JL, editor. Neuro-Ophthalmology Focus 1980. New York: Masson, 1979; 97-116
  8. Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J 2005; 42: 477-80
  9. Rollnick BR, Kaye CI. Nagatoshi K, Hauck W, Martin AO, Reynolds JF. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26:361-75
  10. Schrander-Stumpel CT, De Diesmulders CE, Hennekam RC et al. Oculoariculovertebral spectrum and cerebral anomalies. J Med Genet 1992; 29:326-31.