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

American Journal of Medical Genetics. Part a
Mustafa TekinNejat Akar

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.

References

Mar 1, 1987·The Journal of Pediatrics·G Costin, F R Kaufman
Sep 1, 1994·American Journal of Medical Genetics·M ZollinoG Neri
Oct 1, 1994·Clinical Genetics·D SoekarmanJ P Fryns
Oct 1, 1996·Clinical Genetics·M R Rivera-VegaS H Kofman-Alfaro
May 29, 2000·Clinical Dysmorphology·S F SmithsonR M Winter
Apr 20, 2001·International Journal of Paediatric Dentistry·P A DowlingM McEntagart

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Citations

Jul 15, 2009·Journal of Autism and Developmental Disorders·Mina HahJoachim F Hallmayer
Dec 14, 2006·Orphanet Journal of Rare Diseases·Francesco BrancatiBruno Dallapiccola
Mar 16, 2013·American Journal of Medical Genetics. Part a·Mohamed KhalifaJohn Duby
Nov 28, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Adriana Lo-CastroPaolo Curatolo
May 20, 2014·American Journal of Medical Genetics. Part a·Sanjin TunovicAnne M Slavotinek
Sep 1, 2009·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Harleen KumarAngus Cameron
Sep 9, 2016·American Journal of Medical Genetics. Part a·Alice GoldenbergNicole Philip
Jan 19, 2007·American Journal of Medical Genetics. Part a·K L SkjeiA M Slavotinek
Jun 14, 2019·Molecular Syndromology·Emanuela ScaranoLaura Mazzanti
Aug 18, 2017·American Journal of Medical Genetics. Part a·Karen J LowSarah F Smithson
Apr 8, 2020·World Journal of Clinical Cases·Xiu-Ying GeYan-Yan Hu

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