Nadir görülen bir konjenital anomali: Orofasiyal-Dijital Sendrom Tip 1

Key features of the oral-facial-digital syndrome type 1 (OFDS-1) include malformations of the face, oral cavity and digits. In addition, the clinical phenotype often includes mental retardation and renal functional impairment. Approximately 75% of cases of OFDS-1 are sporadic, and the condition occurs almost exclusively in females. In familial cases, the most likely mode of inheritance is considered to be X-linked dominant with prenatal lethality in affected males. Therefore, the OFDS-1 gene product appears to have widespread importance in organogenesis and is essential for fetal survival