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.
|Number of pages||3|
|Publication status||Published - 1999|
- Cleft lip/palate
- Kapur-Toriello syndrome
- Retinal coloboma
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health