Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria

M. Zollino, A. Battaglia, M. G. D'Avanzo, M. M. Della Bruna, R. Marini, G. Scarano, M. Cappa, G. Neri

Research output: Contribution to journalArticlepeer-review

Abstract

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.

Original languageEnglish
Pages (from-to)302-307
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume52
Issue number3
Publication statusPublished - 1994

Keywords

  • KBG syndrome
  • macrodontia
  • multiple congenital anomalies/mental retardation syndrome
  • phenotypic penetrance
  • syndactyly

ASJC Scopus subject areas

  • Genetics(clinical)

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