KaydedilenlerDerginizi ekleyin

Dergiler / Bezmiâlem Science / 2020 / Cilt: 8 - Sayı: 1

Oro-dental and Radiographic Findings of Weyers Acrofacial Dysostosis: Report of a Rare Case

Weyers Akrofasiyal Disostozis’in Ağız-diş ve Radyografik Bulguları: Nadir Bir Olgu Sunumu

Esra ÖZ
Zuhal KIRZIOĞLU
Sayfa
89–91
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Through this detailed discussion, we aim to contribute to the literature

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Weyers acrofacial dysostosis is a rare type of ectodermal dysplasia syndrome characterized by mild short stature, postaxial polydactyly, dystrophic nails, and dental anomalies (hypodontia, microdontia, taurodontism).
📊
Temel Bulgular & Veri:In this case report, we present the oral and radiographic findings of a 7-year-old girl consistent with the diagnosis of Weyers acrofacial dysostosis.
💡
Sonuç & Katkı:Through this detailed discussion, we aim to contribute to the literature
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Weyers acrofacial dysostosis is a rare type of ectodermal dysplasia syndrome characterized by mild short stature, postaxial polydactyly, dystrophic nails, and dental anomalies (hypodontia, microdontia, taurodontism). In this case report, we present the oral and radiographic findings of a 7-year-old girl consistent with the diagnosis of Weyers acrofacial dysostosis. Through this detailed discussion, we aim to contribute to the literature

Abstract

Hafif boy kısalığı, postaksiyal polidaktili, distrofik tırnaklar ve dental anomaliler (hipodonti, mikrodonti, taurodontizm) ile karakterize otozomal dominant bir bozukluk olan Weyers akrofasiyal disostozis, ektodermal displazi sendromunun nadir görülen bir tipidir. Bu olgu raporunda, 7 yaşındaki kız çocuğunun Weyers akrofasiyal disostozis tanısı ile örtüşen oral ve radyografik bulguları sunulmuştur. Bu ayrıntılı tartışma sayesinde literatüre katkıda bulunmak amaçlanmıştır.

🔖

Bu Makaleye Atıf Yap

ÖZ, E., KIRZIOĞLU, Z. (2020). Oro-dental and Radiographic Findings of Weyers Acrofacial Dysostosis: Report of a Rare Case. Bezmiâlem Science, Cilt: 8 - Sayı: 1, 89–91. https://ajindex.com/articles/215247

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (9)

  1. Itthagarun A, King NM. Ectodermal dysplasia: A review and case report. Quintessance Int 1997;28:595-602
  2. Weyers H. A correlated abnormality of the mandible and extremities (dysostosis acrofacialis). Fortschr Geb Rontgenstr 1952;77:562-7
  3. Howard TD, Guttmacher AE, Mckinnon W, Sharma M, Mckusick VA, Jabs EW. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet 1997;61:1405-12
  4. Shetty DC, Singh HP, Kumar P, Verma C. Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis. J Clin Imaging Sci 2012;2:18
  5. Roubicek M, Spranger J. Weyers acrodental dysostosis in a family. Clin Genet 1984;26:587-90
  6. Ruiz-Perez VL, Goodship JA. Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet Part C Semin Med Genet 2009;151:341-51
  7. Goswami S. Weyers acrofacial dysostosis (Curry-Hall Syndrome): Report of a rare case. Arch Med Health Sci 2018;6:143-6
  8. Tuna EB, Koruyucu M, Kürklü E, Çifter M, Gençay K, Seymen F, et al. Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. J Craniomaxillofac Surg 2016;44:919-24
  9. Hudson CD, Witkop CJ. Autosomal dominant hypodontia with nail dysgenesis. Report of twenty‑nine cases in six families. Oral Surg Oral Med Oral Pathol 1975;39:409‑23. 10. 10.Toriello HV, Franco B. Oral-facial-digital syndrome Type I. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle: University of Washington; 1993; July 24,2002 (updated March 9, 2007). Available at: http://www.ncbi.nlm.nih.gov/ books/NBK1188/.