Confirmation of Kapur-Toriello syndrome in an Italian patient

L. Zelante, M. A. Candela, A. Savoia, P. Gasparini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)151-153
Number of pages3
JournalClinical Dysmorphology
Volume8
Issue number2
Publication statusPublished - 1999

Keywords

  • Cleft lip/palate
  • Kapur-Toriello syndrome
  • Retinal coloboma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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