The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

Mustafa Tekin, Ash Kavaz, Merih Berberoǧlu, Suat Fitoz, Mesiha Ekim, Gönül Öcal, Nejat Akar

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.

Original languageEnglish (US)
Pages (from-to)284-287
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume130 A
Issue number3
DOIs
StatePublished - Oct 15 2004
Externally publishedYes

Keywords

  • Autosomal dominant inheritance
  • Cryptorchidism
  • KBG syndrome
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)

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