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  • Title: Confirmation of Kapur-Toriello syndrome in an Italian patient.
    Author: Zelante L, Candela MA, Savoia A, Gasparini P.
    Journal: Clin Dysmorphol; 1999 Apr; 8(2):151-3. PubMed ID: 10319207.
    Abstract:
    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.
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