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.

Confirmation of Kapur-Toriello syndrome in an Italian patient

SAVOIA A.;GASPARINI P
1999-01-01

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.
Kapur-Toriello syndrome
cleft lip/palate
retinal coloboma
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1064383
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