Literature DB >> 2118779

Growth in the Rubinstein-Taybi syndrome.

C A Stevens1, R C Hennekam, B L Blackburn.   

Abstract

In order to derive standard curves for height, weight, head circumference (OFC), weight-for-height, and height velocity, we obtained serial measurements in 95 patients with the Rubinstein-Taybi syndrome. Fifty individuals were part of an American study and 45 were ascertained in the Netherlands. Prenatal growth appears to be normal in the Rubinstein-Taybi syndrome, but height, weight, and OFC rapidly fall below the 5th centile in the first few months of life. Height velocity is somewhat below the mean but within the normal range except for the lack of a pubertal growth spurt. This phenomenon probably contributes to the short stature which is seen in these patients. Males are overweight for height during childhood while females are overweight during adolescence. The average OFC in males is smaller than in females. In general only a minority of adult patients are microcephalic.

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Year:  1990        PMID: 2118779     DOI: 10.1002/ajmg.1320370609

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


  9 in total

1.  Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Authors:  Deborah Bartholdi; Jeroen H Roelfsema; Francesco Papadia; Martijn H Breuning; Dunja Niedrist; Raoul C Hennekam; Albert Schinzel; Dorien J M Peters
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

2.  Growth failure and outcome in Rett syndrome: specific growth references.

Authors:  Daniel Charles Tarquinio; Kathleen J Motil; Wei Hou; Hye-Seung Lee; Daniel G Glaze; Steven A Skinner; Jeff L Neul; Fran Annese; Lauren McNair; Judy O Barrish; Suzanne P Geerts; Jane B Lane; Alan K Percy
Journal:  Neurology       Date:  2012-10-03       Impact factor: 9.910

3.  Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Authors:  R C Hennekam; M Tilanus; B C Hamel; H Voshart-van Heeren; E C Mariman; S E van Beersum; M J van den Boogaard; M H Breuning
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

4.  Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis.

Authors:  Balazs Hegedus; Tu-Hsueh Yeh; Da Yong Lee; Ryan J Emnett; Jia Li; David H Gutmann
Journal:  Hum Mol Genet       Date:  2008-07-09       Impact factor: 6.150

5.  Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Authors:  Daniela Rusconi; Gloria Negri; Patrizia Colapietro; Chiara Picinelli; Donatella Milani; Silvia Spena; Cinzia Magnani; Margherita Cirillo Silengo; Lorena Sorasio; Vaclava Curtisova; Maria Luigia Cavaliere; Paolo Prontera; Gabriela Stangoni; Giovanni Battista Ferrero; Elisa Biamino; Rita Fischetto; Maria Piccione; Paolo Gasparini; Leonardo Salviati; Angelo Selicorni; Palma Finelli; Lidia Larizza; Cristina Gervasini
Journal:  Hum Genet       Date:  2015-03-25       Impact factor: 4.132

6.  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

7.  A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.

Authors:  Qian Wang; Cong Wang; Wen Bin Wei; Wei Ning Rong; Xiang Yu Shi
Journal:  BMC Med Genomics       Date:  2022-08-19       Impact factor: 3.622

8.  Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Authors:  Hee Jeong Yoo; Kyung Kim; In Hyang Kim; Seong-Hwan Rho; Jong-Eun Park; Ki Young Lee; Soon Ae Kim; Byung Yoon Choi; Namshin Kim
Journal:  Int J Mol Sci       Date:  2015-03-11       Impact factor: 5.923

Review 9.  Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Authors:  Julien Van Gils; Frederique Magdinier; Patricia Fergelot; Didier Lacombe
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096

  9 in total

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