Freeman-Sheldon syndrome: A case report

AREN G., YURDABAKAN Z. Z., Ozcan I.

QUINTESSENCE INTERNATIONAL, cilt.34, sa.4, ss.307-310, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 4
  • Basım Tarihi: 2003
  • Dergi Adı: QUINTESSENCE INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.307-310
  • İstanbul Üniversitesi Adresli: Evet

Özet

Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.