KBG syndrome in a cohort of Italian patients

Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, Anna Sarkozy, Massimo Biondi, Davide De Brasi, Rita Mingarelli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined. Here, we describe eight new patients whose clinical and radiological findings fit the diagnostic criteria of KBG syndrome. While most patients were sporadic in occurrence, in two families the disorder was transmitted from mildly affected mothers to their affected children. The phenotype of KBG syndrome has been reviewed based on published and present patients. EEG anomalies with or without seizures, mixed hearing loss, palatal anomalies with secondary speech disorder, distinct age-related behavior, and cryptorchidism are possible additional characteristics. Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects.

Original languageEnglish
Pages (from-to)144-149
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume131 A
Issue number2
Publication statusPublished - Dec 1 2004


  • Dominant inheritance
  • KBG syndrome
  • Macrodontia
  • Mental retardation
  • Short stature
  • Skeletal anomalies

ASJC Scopus subject areas

  • Genetics(clinical)


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