Confirmation of Kapur-Toriello syndrome in an Italian patient

Clin Dysmorphol. 1999 Apr;8(2):151-3.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Child
  • Cleft Lip / pathology*
  • Cleft Palate / pathology*
  • Face / abnormalities*
  • Humans
  • Intellectual Disability / pathology*
  • Intestines / abnormalities*
  • Male
  • Phenotype
  • Syndrome