Literature DB >> 2118777

Oral aspects of Rubinstein-Taybi syndrome.

R C Hennekam1, J M Van Doorne.   

Abstract

Oral findings in 45 patients with Rubinstein-Taybi syndrome living in The Netherlands are compared with those from the literature. The main non-dental findings were thin upper lip, small oral opening, pouting lower lip, retro/micrognathia, and apparently higher arched, narrow palate. Cleft uvula, cleft palate, or, rarely, cleft upper lip can be part of the syndrome. Timing of the eruption of deciduous and permanent dentition is normal. Sixty-two percent of patients have malpositioned, crowded teeth. Marked caries was found in 36% and was possibly caused by problems in dental care due to the small opening of the mouth, malposition and malformation of the teeth, and non-cooperation of the patients. Hypodontia, hyperdontia, and natal teeth can be manifestations of the syndrome. In 73% of all patients and in 92% of all permanent dentitions, talon cusps were found. Two or more talon cusps are rarely found in the normal population or other syndromes. Therefore, this finding strongly supports the diagnosis of Rubinstein-Taybi syndrome in patients in whom this diagnosis is suspected.

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Year:  1990        PMID: 2118777     DOI: 10.1002/ajmg.1320370607

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  10 in total

1.  Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

Authors:  Dongjing Liu; Hong Wang; Holger Schwender; Mary L Marazita; Zhuqing Wang; Yuan Yuan; Ping Wang; Kung Yee Liang; Yah Huei Wu-Chou; Mengying Wang; Bing Shi; Hongping Zhu; Tao Wu; Terri H Beaty
Journal:  Am J Med Genet A       Date:  2017-04-12       Impact factor: 2.802

2.  Abnormal births and other "ill omens" : The adaptive case for infanticide.

Authors:  C M Hill; H L Ball
Journal:  Hum Nat       Date:  1996-12

3.  Expression patterns of histone acetyltransferases p300 and CBP during murine tooth development.

Authors:  Zhu Chen; Bo Gao; Xuedong Zhou
Journal:  In Vitro Cell Dev Biol Anim       Date:  2011-12-17       Impact factor: 2.416

4.  Oro-facio-dental findings of rubinstein-taybi syndrome as a useful diagnostic feature.

Authors:  R Ebru Tirali; Cagla Sar; S Burcak Cehreli
Journal:  J Clin Diagn Res       Date:  2014-01-12

5.  Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature.

Authors:  Suresh Kumar; Renu Suthar; Inusha Panigrahi; Ram K Marwaha
Journal:  Indian J Hum Genet       Date:  2012-05

6.  Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

Authors:  Pierluigi Marzuillo; Anna Grandone; Ruggero Coppola; Domenico Cozzolino; Adalgisa Festa; Federica Messa; Caterina Luongo; Emanuele Miraglia Del Giudice; Laura Perrone
Journal:  BMC Med Genet       Date:  2013-02-23       Impact factor: 2.103

7.  Co-existence of two dens invaginations with one dens evagination in a maxillary lateral incisor: a case report.

Authors:  Seyed Amir Satvati; Mohammad Shooriabi; Rouhollah Sharifi; Masoud Parirokh; Marzieh Sahebnasagh; Hadi Assadian
Journal:  J Dent (Tehran)       Date:  2014-07-31

8.  Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Authors:  Mohammad M Al-Qattan; Abdulaziz Jarman; Atif Rafique; Zuhair N Al-Hassnan; Heba M Al-Qattan
Journal:  BMC Med Genet       Date:  2019-01-11       Impact factor: 2.103

9.  Natal and Neonatal Teeth: A Case Report and Mecanistical Perspective.

Authors:  Emil Anton; Bogdan Doroftei; Delia Grab; Norina Forna; Mihoko Tomida; Ovidiu Sebastian Nicolaiciuc; Gabriela Simionescu; Eugen Ancuta; Natalia Plopa; Radu Maftei; Ciprian Ilea; Carmen Anton
Journal:  Healthcare (Basel)       Date:  2020-12-04

10.  Prevalence and characteristics of talon cusps in Turkish population.

Authors:  Yeliz Guven; Yelda Kasimoglu; Elif Bahar Tuna; Koray Gencay; Oya Aktoren
Journal:  Dent Res J (Isfahan)       Date:  2016 Mar-Apr
  10 in total

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