Apert syndrome: A case report and review of the literature Apert sendromu: Olgu sunumu ve literatürün gözden geçirilmesi

Açikgöz Y., Belet N., Yalin T., İncesu L., Küçüködük Ş.

Ondokuz Mayis Universitesi Tip Dergisi, cilt.23, sa.2, ss.59-64, 2006 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2006
  • Dergi Adı: Ondokuz Mayis Universitesi Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.59-64
  • Anahtar Kelimeler: Apert syndrome, Craniosynostosis, Newborn, Syndactyly
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

The prevalence of Apert syndrome is approximately 15.5 in bir million births. The principal features are craniosynostosis, midfacial hypoplasia, syndactyly of the hands and feet with mild, moderate or severe mental retardation. Inheritance is usually autosomal dominant. However most cases represent new mutations. Prenatal diagnosis has been mainly based on sonographic documentation of craniosynostosis and syndactly. A newborn with Apert syndrome is presented and related literature was reviewed in this paper.