Oro-facio-digital syndrome type 1: Case report Oro-fasio-dijital sendrom tip 1: Olgu sunumu
Medical Journal of Bakirkoy, cilt.7, sa.3, ss.120-121, 2011 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 7 Sayı: 3
- Basım Tarihi: 2011
- Doi Numarası: 10.5350/btdmjb201107309
- Dergi Adı: Medical Journal of Bakirkoy
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.120-121
- Anahtar Kelimeler: Oro-facio-digital syndrome 1, oral hamartoma, polydactyly
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Oro-facio-digital syndrome (OFDS), a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate, high arched palate, tongue lobulation, hamartoma on the tongue), face (frontal bossing, facial asymmetry, hypertelorism), and digits (syndactyly, brachydactyly, polydactyly). OFDS 1 is an X-linked dominant condition. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Being a rare entity, this paper presents a case of OFDS 1.