"Rubinstein–Taybi syndrome"

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review. Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between CREBBP variants

[Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome]. To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype. This case series study was performed on pediatric patients who were referred to the Children's Hospital of Capital Institute of Pediatrics

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (, ) which encode

Duane syndrome associated with Rubinstein-Taybi syndrome type II. We report the case of an 8-month-old infant born at 33 weeks' gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature episignatures for RSTS1 or RSTS2. We propose that skipping of exon 20 in EP300 is associated with a distinct form of Rubinstein-Taybi syndrome featuring clinical characteristics not fully aligning with RSTS1 or RSTS2. Our findings increase the understanding of RSTS genetic and molecular basis and stress the need for further research to establish definitive genotype-phenotype correlations.

Rubinstein-Taybi Syndrome: Presentation in the First Month of Life. This web-based survey of 311 respondents from 25 countries provides additional information about the early presentation of Rubinstein-Taybi syndrome. Most (86%) infants present during the neonatal period, with 69% of these within 24 hours of life. Prolonged hospital stay is common (61%).

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying

Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome. In Rubinstein-Taybi syndrome, patients may have a particularly severe clinodactyly of the thumb. We evaluated a new method for correction of these severe clinodactylies using non-vascularized toe phalanx transfer as a replacement for the abnormal delta phalanx. Results

Rubinstein-Taybi Syndrome We value your privacyWe and our partners store and/or access information on a device, such as cookies and process personal data, such as unique identifiers and standard information sent by a device for personalised ads and content, ad and content measurement, and audience insights, as well as to develop and improve products. With your permission we and our partners may in the businessEnter your email Join nowBy clicking ‘Join now’ you agree to our Terms and conditions and Privacy policy.FURTHER READING AND REFERENCESRubinstein-Taybi Syndrome; MedlinePlusRubinstein-Taybi Syndrome 1, RSTS1; Online Mendelian Inheritance in Man (OMIM)Milani D, Manzoni FM, Pezzani L, et al; Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr. 2015 Jan

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome. Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene. Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report. Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. We report on a Saudi boy with RSTS Type 1 and the following

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Early Antenatal Sonographic Findings of Rubinstein-Taybi Syndrome: Imaging of High-Arched Palate and Bilateral Abducted Thumbs on Surface Rendering Mode at 17 Weeks

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60

Anaesthetic Management of Children with Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome (RTS) is a rare, autosomal dominant syndrome presenting with mental retardation and physical abnormalities, including broad thumbs, big and broad toes, short stature and craniofacial anomalies. Special attention was paid to the possibilities of difficult airway, aspiration pneumonia and cardiovascular

Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome is characterized by mental retardation, atypical facial features, broad thumbs and toes, and scoliosis. Polycystic ovaries are associated with chronic anovulation and abnormal uterine bleeding. A 15-year old female patient was diagnosed with Rubinstein-Taybi Syndrome