Frontonasal dysplasia: A family presenting autosomal dominant inheritance pattern

Koçak H., CEYLANER G.

Genetic Counseling, cilt.20, sa.1, ss.63-68, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.63-68
  • Anahtar Kelimeler: Hypertelorism, Median cleft face, Frontonasal dysplasia, Dysostosis, Autosomal dominant inheritance, 2 SUCCESSIVE GENERATIONS, DYSOSTOSIS
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern: Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak. It is usually a sporadic disorder, although a few familial cases have been reported. We report here a three-generation family with multiple affected members with frontonasal dysplasia. This observation suggests autosomal dominant inheritance. Furthermore, some of the features e.g. over-riding toes, nail changes, vertical crease on plantar region of the feet in the index patient were not reported up to now.