Rubinstein–Taybi syndrome

Hennekam, Raoul C. M.

doi:10.1038/sj.ejhg.5201594

Cited by 264 publications

(240 citation statements)

References 22 publications

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“…With regard to growth, feeding difficulties are common in infants with RTS due to oral-motor coordination difficulties and failure to thrive. Initial growth retardation with poor weight gain during infancy often gives way to overweight in childhood and adolescence due to overfeeding (Hennekam 2006;Stevens 2007). Our results corroborate this reported tendency since we found a positive significant correlation between age and overweight in the RTS group.…”

Section: Discussionmentioning

confidence: 99%

“…Other medical problems such as neonatal feeding difficulties, neonatal respiratory difficulties, and congenital heart defects may occur. Chromosomal or molecular abnormalities are found in about 55% of the cases (Hennekam 2006;Stef et al 2007). The syndrome has been mapped to 16p13.3 (Lacombe et al 1992) with two genes currently known to be linked to the syndrome: CREB Binding Protein (CREBPP) and E1A Binding Protein P300 (EP300) (Roelfsema et al 2005).…”

Section: Introductionmentioning

confidence: 97%

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Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Galèra

Taupiac

Fraisse

et al. 2009

J Autism Dev Disord

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Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in CREBBP gene) and 39 children (mean age = 8.6 years) matched on developmental level, age and gender were administered the Child Behavior Checklist and the Children's Social Behavior Questionnaire. Children with RTS did not exhibit higher internalizing (affective and anxiety symptoms) or externalizing (disruptive symptoms) behavioral problems than expected for their age/developmental range. However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Galèra

Taupiac

Fraisse

et al. 2009

J Autism Dev Disord

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“…The birth prevalence of RSTS is 1:100,000 to 1:125,000 (Hennekam, 2006). RSTS is caused by a heterozygous mutation in the gene encoding the transcriptional co‐activator CREB‐binding protein ( CREBBP ) on chromosome 16p13.3 in about 60% of affected individuals (Petrij et al, 1995), a submicroscopic deletion at 16p13.3 in about 10% of individuals (Hennekam, 2006), or a mutation of the gene E1A binding protein p300 ( EP300 ) on chromosome 22q13.2 in about 5–10% of individuals (Fergelot et al, 2016; Roelfsema et al, 2005). In the remaining RSTS individuals, no specific genetic alterations can be detected and the diagnosis is based on the combination of clinical manifestations only.…”

Section: Introductionmentioning

confidence: 99%

“…In the remaining RSTS individuals, no specific genetic alterations can be detected and the diagnosis is based on the combination of clinical manifestations only. Most mutations occur de novo although vertical transmission of mutations has been described (Hennekam, 2006). …”

Section: Introductionmentioning

confidence: 99%

Benign and malignant tumors in Rubinstein–Taybi syndrome

Boot

Belzen

Overbeek

et al. 2018

American J of Med Genetics Pt A

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Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population–based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large‐cell B‐cell lymphoma; breast cancer; non‐small cell lung carcinoma; colon carcinoma). No clear genotype–phenotype correlation became evident. The Dutch population‐based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed.

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“…However, a constant association and progression between these ectatic disorders has not been described to validate these hypotheses. In the reports of keratoglobus associated with thyroid ophthalmopathy 15 and orbital inflammatory disease, 14 the authors hypothesise ischaemia of the 6,60,61 Mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and big toes, congenital heart defects, joint hypermobility, obesity…”

Section: Aetiological Factorsmentioning

confidence: 99%

Keratoglobus

Wallang

Das²

2013

Eye

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Keratoglobus is a rare noninflammatory corneal thinning disorder characterised by generalised thinning and globular protrusion of the cornea. It was first described as a separate clinical entity by Verrey in 1947. Both congenital and acquired forms have been shown to occur, and may be associated with various other ocular and systemic syndromes including the connective tissue disorders. Similarities have been found with other noninflammatory thinning disorders like keratoconus that has given rise to hypotheses about the aetiopathogenesis. However, the exact genetics and pathogenesis are still unclear. Clinical presentation is characterised by progressive diminution resulting from irregular corneal topography with increased corneal fragility due to extreme thinning. Conservative and surgical management for visual rehabilitation and improved tectonic stability have been described, but remains challenging. In the absence of a definitive standard procedure for management of this disorder, various surgical procedures have been attempted in order to overcome the difficulties. This article reviews the aetiological factors, differential diagnosis, histopathology, and management options of keratoglobus.

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Rubinstein–Taybi syndrome

Abstract: In this review a short overview of pertinent clinical and molecular data of the Rubinstein -Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.

Cited by 264 publications

References 22 publications

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Benign and malignant tumors in Rubinstein–Taybi syndrome

Keratoglobus

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