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Confirmation of Kapur-Toriello syndrome in an Italian patient
L Zelante1, M A Candela, A Savoia
1Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, Italy.
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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