Confirmation of Kapur-Toriello syndrome in an Italian patient.
We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007422:Intestines / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013577:Syndrome