The malformations most often involve the head and neck (palatine cleft, ogival palate, webbed appearance of the neck, microphthalmia, absent lower eyelashes, deformed external ears, micrognathia), limbs (triphalangeal thumb, supernumerary digits, syndactyly), urogenital tract, heart and/or the spinal cord.In 1999, Draptchinskaia reported mutations in the gene encoding ribosomal protein S19 in patients with Diamond-Blackfan anemia [4]. This evidence concerns the gene RPS19 and Diamond-Blackfan anemia.