Clinical variability in KBG syndrome: Report of three unrelated families

Gustavo Henrique Boff Maegawa, Julio Cesar Loguercio Leite, Têmis Maria Félix, Heraldo Luís Dias Da Silveira, Heloísa Emilia Da Silveira

Research output: Contribution to journalArticlepeer-review


The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. Hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.

Original languageEnglish (US)
Pages (from-to)150-154
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume131 A
Issue number2
StatePublished - Dec 1 2004


  • KBG syndrome
  • Macrodontia
  • Mental retardation
  • Skeletal anomalies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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