• Achiasma and Kapur-Toriello syndrome: Two rare entities
• Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies
• Confirmation of Kapur-Toriello syndrome in an Italian patient
• Further delineation of the Kapur-Toriello syndrome
• Isolated diaphragmatic defect in three sibs
• Kapur-Toriello syndrome: a further case report and expansion of the phenotype
• Kapur-Toriello syndrome: further delineation