Literature DB >> 11310136

The KBG syndrome, characteristic dental findings: a case report.

P A Dowling1, P Fleming, R J Gorlin, M King, N C Nevin, M McEntagart.   

Abstract

Short stature and developmental delay may be observed in many genetic conditions and well-defined syndromes. A 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay. Although a genetic syndrome was suspected, a definitive diagnosis was not made until the dental findings of KBG syndrome were recognised, namely grossly enlarged maxillary permanent central incisors and hypodontia.

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Year:  2001        PMID: 11310136     DOI: 10.1046/j.1365-263x.2001.00231.x

Source DB:  PubMed          Journal:  Int J Paediatr Dent        ISSN: 0960-7439            Impact factor:   3.455


  4 in total

1.  An unusual case of KBG syndrome with unique oral findings.

Authors:  Abdul Hafiz; Abdulla Mufeed; Mohamad Ismael; Mheboob Alam
Journal:  BMJ Case Rep       Date:  2015-07-17

2.  Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Authors:  Asli Sirmaci; Michail Spiliopoulos; Francesco Brancati; Eric Powell; Duygu Duman; Alex Abrams; Guney Bademci; Emanuele Agolini; Shengru Guo; Berrin Konuk; Asli Kavaz; Susan Blanton; Maria Christina Digilio; Bruno Dallapiccola; Juan Young; Stephan Zuchner; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2011-07-21       Impact factor: 11.025

Review 3.  KBG syndrome.

Authors:  Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2006-12-12       Impact factor: 4.123

4.  The KBG syndrome: Case report.

Authors:  Ilaria Morghen; Enrico Ferri
Journal:  Cases J       Date:  2008-09-26
  4 in total

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