KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

K. L. Skjei, Madelena Martin, A. M. Slavotinek

Research output: Contribution to journalReview article

43 Scopus citations


KBG syndrome is a multiple congenital anomaly (MCA) syndrome comprising developmental delay, postnatal short stature, and delayed bone age. Many physical anomalies involving the face, hands, and costovertebral axis have been described in this syndrome. We present twin males with KBG syndrome and a review of 50 published case reports, with particular emphasis on the neurological aspects of KBG syndrome, including seizures, MRI findings, and behavior difficulties. It is argued that diagnostic criteria for KBG syndrome should include neurological involvement, that is, global developmental delay, seizures, and/or mental retardation (MR). The characteristic facial changes and representative hand and costovertebral anomalies are also defined. These diagnostic criteria were obtained from 50 publications and appeared to support the diagnosis in 43 cases. They will be helpful to pediatricians, geneticists, and neurologists in evaluating patients for this condition.

Original languageEnglish (US)
Pages (from-to)292-300
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Feb 1 2007
Externally publishedYes



  • Autosomal dominant
  • Costovertebral anomalies
  • Delayed bone age
  • KBG syndrome
  • Macrodontia
  • Mental retardation
  • Seizures
  • Short statute

ASJC Scopus subject areas

  • Genetics(clinical)

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