rubinstein taybi syndrome


Summary: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Top Publications

  1. Roelfsema J, White S, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76:572-80 pubmed
    ..We extended the search for mutations to the EP300 gene and showed that mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 for a congenital disorder...
  2. Coupry I, Monnet L, Attia A, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004;23:278-84 pubmed
    ..Our results therefore suggest that real-time quantitative PCR is a useful technique to be included in the deletion search in RTS patients...
  3. Petrij F, Giles R, Dauwerse H, Saris J, Hennekam R, Masuno M, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376:348-51 pubmed
    ..Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy...
  4. Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005;117:485-93 pubmed
  5. Bartsch O, Wagner A, Hinkel G, Krebs P, Stumm M, Schmalenberger B, et al. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet. 1999;7:748-56 pubmed
    ..The signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome...
  6. Lázaro J, Herráez S, Gállego L, Caballero E, Díaz J. Spontaneous patella dislocation in Rubinstein Taybi Syndrome. Knee. 2007;14:68-70 pubmed
    A patient with Rubinstein Taybi Syndrome ( RTS) was found to have spontaneous patella dislocation and spontaneous patella reduction. Clinical examination revealed ligamentous laxity and reducible patella...
  7. Murata T, Kurokawa R, Krones A, Tatsumi K, Ishii M, Taki T, et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. Hum Mol Genet. 2001;10:1071-6 pubmed
    ..Our findings raise the possibility that treatment of RTS patients with histone deacetylase inhibitors might have beneficial effects...
  8. Kalkhoven E, Roelfsema J, Teunissen H, den Boer A, Ariyurek Y, Zantema A, et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003;12:441-50 pubmed
    ..These findings therefore underscore the functional importance of the PHD finger in vivo and imply that reduction of CBP HAT activity, as exemplified here by disruption of the PHD finger, is sufficient to cause RTS...
  9. Coupry I, Roudaut C, Stef M, Delrue M, Marche M, Burgelin I, et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002;39:415-21 pubmed

More Information


  1. Blazquez E, Narvaez D, Fernandez Lopez A, Garcia Aparicio L. Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. Rev Esp Anestesiol Reanim. 2016;63:361-4 pubmed publisher
    ..Lung isolation was achieved with a bronchial blocker guided with a fiberoptic bronchoscope and one-lung ventilation was performed successfully. ..
  2. Bartsch O, Labonté J, Albrecht B, Wieczorek D, Lechno S, Zechner U, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A. 2010;152A:181-4 pubmed publisher
  3. Balci S, Engiz O, Alikasifoglu M, Esinler I, Sinan Beksac M. Association of assisted reproductive technology with twinning and congenital anomalies. Indian J Pediatr. 2008;75:638-40 pubmed publisher
    ..The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy increases congenital malformations. ..
  4. Grkovic S, Ješić M, Ješić M, Maglajlic S. [Rubinstein-Taybi syndrome]. Srp Arh Celok Lek. 2004;132 Suppl 1:109-10 pubmed
    ..The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned. ..
  5. Bartholdi D, Roelfsema J, Papadia F, Breuning M, Niedrist D, Hennekam R, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007;44:327-33 pubmed
    ..Part of the clinical variability in RSTS is explained by genetic heterogeneity. The diagnosis of RSTS must be expanded to include patients without broad thumbs or halluces. ..
  6. Hsiung S. Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). Dermatol Online J. 2004;10:2 pubmed
    ..The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). ..
  7. El Hafidi N, Ghanimi Z, Gaouzi A, Benhamou B, Alaoui M sseffer F. [Rubinstein-Taybi syndrome: a familial form ]. Arch Pediatr. 2004;11:978-9 pubmed
  8. Ausio J, Levin D, De Amorim G, Bakker S, MacLeod P. Syndromes of disordered chromatin remodeling. Clin Genet. 2003;64:83-95 pubmed
  9. Lopez M, Seidel V, Santibáñez P, Cervera Acedo C, Castro de Castro P, Domínguez Garrido E. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. BMC Med Genet. 2016;17:97 pubmed
    ..We would recommend molecular testing of apparently healthy parents, and in the case of inherited mutations, of all adult first degree relatives at risk. ..
  10. Golan I, Baumert U, Held P, Feuerbach S, Mussig D. Radiological findings and molecular genetic confirmation of cleidocranial dysplasia. Clin Radiol. 2002;57:525-9 pubmed
  11. Prescott T, Hennekam R. Posterior helical pits. Eur J Med Genet. 2007;50:159-61 pubmed
    ..We suggest that posterior helical pits, when present, are an excellent diagnostic handle. ..
  12. Roelfsema J, Peters D. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007;9:1-16 pubmed
    ..Here, we describe the clinical presentation of Rubinstein-Taybi syndrome, review the mutation spectrum and discuss the current understanding of causative molecular mechanisms. ..
  13. Bloch Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A. 2007;143A:570-3 pubmed
    ..Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management. ..
  14. Hallam T, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006;63:1725-35 pubmed
    ..Finally, we will discuss novel therapeutic approaches targeted to CBP/CREB function for treating the cognitive dysfunction of RTS and other neurological disorders. ..
  15. Dauwerse J, van Belzen M, van Haeringen A, van Santen G, van de Lans C, Rahikkala E, et al. Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. Eur J Hum Genet. 2016;24:1639-1643 pubmed publisher
    ..Patient or tissue-specific splice effects as well as modifying genes likely will explain the difference in phenotype. ..
  16. Wojcik C, Volz K, Ranola M, Kitch K, Karim T, O Neil J, et al. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?. Am J Med Genet A. 2010;152A:479-83 pubmed publisher
    ..CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL. ..
  17. Zheng F, Kasper L, Bedford D, Lerach S, Teubner B, Brindle P. Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice. PLoS ONE. 2016;11:e0146366 pubmed publisher
  18. Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters D, Dauwerse H, et al. Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A. 2009;149A:2849-54 pubmed publisher
    ..In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS. ..
  19. Jain A, Rehman S, Smith G. Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome. J Hand Surg Eur Vol. 2010;35:296-301 pubmed publisher
    ..No patient in our series has yet undergone further corrective surgery. ..
  20. Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, et al. Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography. Genet Test. 2006;10:265-71 pubmed
    ..We conclude that large deletions including several exons are a relatively frequent cause of RTS, and that MP/LC is an effective method for detecting these deletions. ..
  21. Fujii K, Miyashita T. [Hedgehog signaling pathway and human disorders]. No To Hattatsu. 2009;41:247-52 pubmed
    ..Thus, understanding of these molecular relationships may facilitate the development of new therapies and treatments for diseases caused by hedgehog signaling disorders. ..
  22. Martin K, Sun Y. To learn better, keep the HAT on. Neuron. 2004;42:879-81 pubmed
    ..and Korzus et al. use two different mouse models of Rubinstein-Taybi syndrome to elucidate a role for the histone acetyltransferase activity of CREB binding protein (CBP) in long-term memory and plasticity. ..
  23. Verhoeven W, Tuinier S, Kuijpers H, Egger J, Brunner H. Psychiatric profile in rubinstein-taybi syndrome. A review and case report. Psychopathology. 2010;43:63-8 pubmed publisher
    ..Patients with undetected genetic syndromes do occur in clinical psychiatry, and the clinician has to consider such disorders in cases with disturbed development, dysmorphias and somatic comorbidity. ..
  24. Kurtoglu S, Akcakus M, Gunes T, Cetin N, Topaloglu N. Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. J Pediatr Endocrinol Metab. 2003;16:457-9 pubmed
    ..Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism. ..
  25. Sy C, Henry J, Kura B, Brenner A, Grandhi R. Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein-Taybi Syndrome: Case Report and Review of the Literature. World Neurosurg. 2018;109:342-346 pubmed publisher
    ..A multidisciplinary team approach is ideal as successful treatment of our patient using surgical debulking, appropriate chemotherapy, and close postoperative follow-up has resulted in an excellent clinical outcome. ..
  26. Swaminathan V, Reddy B, Ruthrotha Selvi B, Sukanya M, Kundu T. Small molecule modulators in epigenetics: implications in gene expression and therapeutics. Subcell Biochem. 2007;41:397-428 pubmed
    ..enzymes involved in gene regulation, their connection to disease manifestation and focuses on the role of small molecule modulators in understanding enzyme function and also the design and the evolution of chromatin therapeutics ..
  27. Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck Thambo C, et al. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. J Autism Dev Disord. 2009;39:1252-60 pubmed publisher
    ..The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning. ..
  28. Davidovich E, Eimerl D, Peretz B. Dental treatment of a child with Rubinstein-Taybi syndrome. Pediatr Dent. 2005;27:385-8 pubmed
    ..The GA process was uneventful, despite the extensive treatment delivered to the patient. Prospects for future good oral and dental status in this patient are questionable because of her extreme lack of cooperation. ..
  29. Koch M, Lindner S, Langmann A. [A refractory pupil]. Ophthalmologe. 2006;103:704-6 pubmed
  30. Gao Z, Jiang Q, Chen Q, Xu K, Liu Z, Chen X, et al. [Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. Zhonghua Er Ke Za Zhi. 2017;55:824-829 pubmed publisher
    ..Reasonable application of different genetic testing methods can significantly improve the diagnostic accuracy of molecular genetic etiology in children with ID/DD...
  31. Lopez M, García Oguiza A, Armstrong J, García Cobaleda I, Garcia Minaur S, Santos Simarro F, et al. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Med Genet. 2018;19:36 pubmed publisher
    ..Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families. ..
  32. Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van Esch H, et al. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010;47:155-61 pubmed publisher
    ..3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant. ..
  33. Rao S, Fan D, Pang C, Li W, Ng J, Good W, et al. Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. Cornea. 2002;21:126-30 pubmed
    ..The findings in our patient add to the spectrum of ocular changes described in Rubinstein-Taybi syndrome and confirm earlier reports of poor ocular prognosis in corneal keloids and Rubinstein-Taybi syndrome. ..
  34. Peñaranda A, Cerón M. Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report. Otol Neurotol. 2007;28:501-3 pubmed
    ..We consider it important to report and describe the simultaneous presence of these pathologic findings and to be able to analyzeif these otologic findings are coincidental or truly associated with RTS. ..
  35. Lubinsky M, Kantaputra P. Syndromes with supernumerary teeth. Am J Med Genet A. 2016;170:2611-6 pubmed publisher
    ..2016 Wiley Periodicals, Inc. ..
  36. Altintas F, Cakmakkaya S. Anesthetic management of a child with Rubinstein-Taybi syndrome. Paediatr Anaesth. 2004;14:610-1 pubmed
  37. Belyamani L, Zidouh S, Kamili N. [Intubation using a videolaryngoscope in an adolescent girl with Rubinstein-Taybi syndrome]. Can J Anaesth. 2008;55:57-8 pubmed publisher
  38. Elliott A, Evans J, Chudley A, Reed M. The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders. Skeletal Radiol. 2004;33:345-51 pubmed
    ..Magnetic resonance imaging of the kissing delta phalanx has not been previously described...
  39. Bartsch O, Rasi S, Delicado A, Dyack S, Neumann L, Seemanova E, et al. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006;120:179-86 pubmed
    ..Further studies are needed to delineate the clinical spectrum of the new disorder and to clarify the role of DNASE1...
  40. Lopez Soriano F, Jimenez J, Lajarín B, Nuño de la Rosa V. [Anesthesia for a boy with Rubinstein-Taybi syndrome]. Rev Esp Anestesiol Reanim. 2007;54:257-8 pubmed
  41. Iyer N, Ozdag H, Caldas C. p300/CBP and cancer. Oncogene. 2004;23:4225-31 pubmed
    ..The involvement of these proteins in critical tumorigenic pathways (including TGF-beta, p53 and Rb) provides a mechanistic route as to how their inactivation could result in cancer...
  42. Hanauer D, Argilla M, Wallerstein R. Rubinstein-Taybi syndrome and hypoplastic left heart. Am J Med Genet. 2002;112:109-11 pubmed
  43. Kalyoncu U, Tufan A, Karadag O, Kisacik B, Akdogan A, Calguneri M. Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3. J Natl Med Assoc. 2006;98:1692-3 pubmed
    ..MEFV maps to chromosome 16p and encodes a 781-amino-acid protein called pyrin or marenostrin, which is expressed mainly in neutrophils and myeloid bone marrow precursors. Herein, we report a case with RTS and FMF...
  44. Fistarol S, Itin P. Nail changes in genodermatoses. Eur J Dermatol. 2002;12:119-28 pubmed
    ..Using nail changes in selected genodermatoses with a known genetic background, we try to elucidate the genesis of inherited nail disorders and review the resultant clinical manifestations...
  45. Kargi A, Balci S, Akoz T, Kargi S, Erdogan B. A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?. Turk J Pediatr. 2001;43:166-71 pubmed
    ..We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity...
  46. Wang J, Weaver I, Gauthier Fisher A, Wang H, He L, Yeomans J, et al. CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain. Dev Cell. 2010;18:114-25 pubmed publisher
  47. Wilbur A. Possible case of Rubinstein-Taybi syndrome in a prehistoric skeleton from west-central Illinois. Am J Med Genet. 2000;91:56-61 pubmed
    ..It is suggested that Yo3-96 represents the earliest known case of Rubinstein-Taybi syndrome, a mental retardation syndrome that has been described in individuals from several modern populations...
  48. Verstegen M, van den Munckhof P, Troost D, Bouma G. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report. J Neurosurg. 2005;102:167-8 pubmed
    ..The patient harbored a bifrontal ossifying meningioma and multiple intracranial meningiomas. She underwent surgery for the frontal ossifying meningioma and a right frontoparietal meningioma...
  49. Cambiaghi S, Ermacora E, Brusasco A, Canzi L, Caputo R. Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. Pediatr Dermatol. 1994;11:21-5 pubmed
    ..Possibilities to explain the association include contiguous gene syndrome, the action of a pleiotropic gene, predisposition to malformations, and mere coincidence...
  50. Viosca J, Lopez Atalaya J, Olivares R, Eckner R, Barco A. Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology. Neurobiol Dis. 2010;37:186-94 pubmed publisher
  51. Sahiner U, Senel S, Erkek N, Karacan C, Yoney A. Rubinstein Taybi syndrome with hepatic hemangioma. Med Princ Pract. 2009;18:162-4 pubmed publisher
    ..It was the aim of our study to present a case of Rubinstein Taybi syndome (RTS) associated with hepatic hemangioma...
  52. Morales Chávez M. Dental management of a patient with Rubinstein-Taybi syndrome. Spec Care Dentist. 2010;30:124-6 pubmed publisher
    ..Dental treatment was carried out under sedation due to the patient's inability to cooperate during dental treatment. After 3 years of follow-up there were no new caries and the periodontal health had improved...
  53. Josselyn S. What's right with my mouse model? New insights into the molecular and cellular basis of cognition from mouse models of Rubinstein-Taybi Syndrome. Learn Mem. 2005;12:80-3 pubmed
  54. Torii C, Kosaki K. [Molecular diagnosis of multiple malformation syndrome]. Nihon Rinsho. 2005;63 Suppl 12:431-6 pubmed
  55. Kaufmann W, Moser H. Dendritic anomalies in disorders associated with mental retardation. Cereb Cortex. 2000;10:981-91 pubmed
    ..Finally, a model of genotype to neurologic phenotype pathway in MR, centered in dendritic abnormalities, is postulated...
  56. Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. 2004;18:607-10 pubmed
    ..These syndromes may be independent, but these rare diseases and genetic abnormalities may be linked together...
  57. Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, et al. Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenit Anom (Kyoto). 2005;45:125-31 pubmed
    ..The implementation of similar methodologies for other dysmorphic syndromes will help medical geneticists to confirm their clinical impressions and to provide accurate genetic counseling for patients and their families...
  58. McManus K, Hendzel M. CBP, a transcriptional coactivator and acetyltransferase. Biochem Cell Biol. 2001;79:253-66 pubmed
    ..We will also examine the regulation of the CBP histone acetyltransferase activity in the cell cycle, by signal-transduction pathways and throughout development...
  59. Freitas N, Imbronito A, La Scala C, Lotufo R, Pustiglioni F. Periodontal disease in a Rubinstein-Taybi syndrome patient: case report. Int J Paediatr Dent. 2006;16:292-6 pubmed
  60. Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet A. 2005;135:130-3 pubmed
    ..One patient developed severe cervical myelopathy. Malformation of the cervical spine may be a common syndromic constituent of RTS, to which special attention should be paid to prevent its neurologic sequelae...
  61. Blough R, Petrij F, Dauwerse J, Milatovich Cherry A, Weiss L, Saal H, et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am J Med Genet. 2000;90:29-34 pubmed
    ..No phenotypic differences between partial deletion, complete deletion, and nondeletion patients were observed, supporting a haploinsufficiency model for RSTS...
  62. Wong A. Improved haemodynamics with sevoflurane in laminectomy in a child with Rubinstein-Taybi syndrome. Anaesth Intensive Care. 2005;33:684-5 pubmed
  63. Balci S, Bostanci S, Ekmekci P, Cebeci I, Bokesoy I, Bartsch O, et al. A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. Pediatr Dermatol. 2004;21:44-7 pubmed
    ..We report a patient with characteristic manifestations of RTS and congenital malalignment of the great toenails. The association of these two entities has not been reported previously...
  64. Giannetti L, Consolo U, Bambini F. [Tooth and oral mucosa hereditary anomalies in complex syndromes characterized by hyper- or hypotrichosis]. Minerva Stomatol. 2003;52:25-30 pubmed
    ..Waiting for a more comprehensive genetic definition and classification, these anomalies are grouped according to the hair defect (hypotrichosis, hypertrichosis and mixed-type)...
  65. Hosek J, Borková A. [The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome]. Cas Lek Cesk. 2008;147:136-40 pubmed
    ..Therefore, substantial part is devoted to aetiology, where emphasis is put on a genetic origin of the Rubinstein-Taybi syndrome. Possibilities of this diagnose are mentioned at the end of the article...
  66. Tanaka T, Ling B, Rubinstein J, Crone K. Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 2006;105:261-4 pubmed
    ..They also reviewed the literature and did not find any published series describing such an association with this syndrome...
  67. Giles R, Petrij F, Dauwerse H, den Hollander A, Lushnikova T, van Ommen G, et al. Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics. 1997;42:96-114 pubmed
    ..We report here the cloning, physical mapping, characterization, and full cDNA nucleotide sequence of the human CBP gene...
  68. Kurosawa K, Fukutani K, Masuno M, Kawame H, Ochiai Y. Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome. Pediatr Int. 2002;44:330-2 pubmed
  69. Chiang P, Lee N, Chien N, Hwu W, Spector E, Tsai A. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A. 2009;149A:1463-7 pubmed publisher
    ..Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients...
  70. Mrugacz M, Rydzanicz M, Frajdenberg A, Podfigurna Musielak M, Gajecka M. [Myopia in systemic disorders]. Klin Oczna. 2009;111:84-8 pubmed
  71. Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B, et al. Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res. 2002;5:243-9 pubmed
    ..We conclude that molecular-genetic analysis may be a helpful tool in the differential diagnosis of many congenital diseases such as CCD and RTS...
  72. Weeber E, Levenson J, Sweatt J. Molecular genetics of human cognition. Mol Interv. 2002;2:376-91, 339 pubmed
  73. Costin D, Hothazie C, Popa A, Bogdanici C, Petraru D, Vlad A, et al. [Chronic dacryocystitis fistulization in a Rubinstein-Taybi syndrome]. Rev Med Chir Soc Med Nat Iasi. 2001;105:803-5 pubmed
    ..The difficulties occurred as a result of numerous antibiotic treatments and surgical procedures suffered by the patient since his second week of life...
  74. De Silva B. What syndrome is this? Rubenstein-Taybi syndrome. Pediatr Dermatol. 2002;19:177-9 pubmed
  75. Sato Y, Miwa T, Hiroki K. Tension pneumothorax during laparoscopic Nissen fundoplication in a child. J Clin Anesth. 2007;19:162-3 pubmed
  76. Alarcon J, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel E, et al. Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron. 2004;42:947-59 pubmed
  77. Dalal A, Phadke S. Morphometric analysis of face in dysmorphology. Comput Methods Programs Biomed. 2007;85:165-72 pubmed
    ..We obtained photographs of 20 individuals with Rubinstein Taybi syndrome and 30 normal, age and sex matched individuals...
  78. Wiley S, Swayne S, Rubinstein J, Lanphear N, Stevens C. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003;119A:101-10 pubmed
    ..This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines...
  79. Bourtchouladze R, Lidge R, Catapano R, Stanley J, Gossweiler S, Romashko D, et al. A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Proc Natl Acad Sci U S A. 2003;100:10518-22 pubmed
    ..Our results suggest that PDE4 inhibitors may be used to treat the cognitive dysfunction of RTS patients...
  80. Ihara K, Kuromaru R, Takemoto M, Hara T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet. 1999;83:365-6 pubmed
    ..In view of these findings, she was diagnosed to have premature thelarche. Premature thelarche may not be uncommon in girls with RTS...
  81. Muneuchi G, Kogure T, Sano N, Hamamoto Y, Kishikawa Y, Tamai M, et al. Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia. Congenit Anom (Kyoto). 2005;45:65-6 pubmed
    ..Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia...
  82. Ishizaka S, Sou G, Morofuji Y, Hayashi K, Kitagawa N, Tateishi Y, et al. [Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report]. Brain Nerve. 2010;62:1083-8 pubmed
    ..Magnetic resonance images showed a cerebral infarction caused by anterior cerebral artery dissection. Coil embolization was performed on enlargement of the dissecting aneurysm, and the procedure was successful...
  83. Foley P, Bunyan D, Stratton J, Dillon M, Lynch S. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. 2009;149A:997-1000 pubmed publisher
    ..The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son...
  84. Ceynowa M, Mazurek T. Congenital patella dislocation in a child with Rubinstein-Taybi syndrome. J Pediatr Orthop B. 2009;18:47-50 pubmed publisher
    ..Stanisavljevic procedure in this case gave good results. Sonography gives excellent view of the unossified patella, as well as other nearby soft tissues, and is sufficient for a correct diagnosis...
  85. Goldstone A, Beales P. Genetic obesity syndromes. Front Horm Res. 2008;36:37-60 pubmed publisher
  86. Van Beekum O, Kalkhoven E. Aberrant forms of histone acetyltransferases in human disease. Subcell Biochem. 2007;41:233-62 pubmed
    ..This seems particularly relevant given the wide range of diseases in which acetyltransferases have been implicated and may help to open up new therapeutic avenues...
  87. Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, et al. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006;7:77 pubmed
    ..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...
  88. Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, Suzuki M, et al. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet. 1999;8:387-96 pubmed
    ..These results implicate a crucial role for CBP in mammalian LTM. Our CBP +/- mice would be an excellent model for the study of the role of CBP in development and memory storage mechanisms...
  89. Naimi D, Munoz J, Rubinstein J, Hostoffer R. Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006;27:281-4 pubmed
    ..Aggressive investigation and management in patients with RTS may further determine the mechanism of this deficiency and enhance the quality of life of these patients...