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Total: 31 |
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| PMID (PMCID) | ||
|---|---|---|
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30183454 |
OTHER | |
| Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. | ||
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Naik JM, Naik MN, Ali MJ. Orbit. 2018;38(4):335-337. |
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| Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. | ||
|
29383823 |
FEMALE | |
| Perthes disease: A new finding in Floating-Harbor syndrome. | ||
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Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C. Am J Med Genet A. 2018;176(3):703-706. |
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| Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. | ||
|
27366579 |
OTHER | |
| Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. | ||
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Karahan MA, Sert H, Ayhan Z, Ayhan B. Turk J Anaesthesiol Reanim. 2016;44(3):152-4. |
||
| 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. | ||
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27964710 (5154174) |
FEMALE | Child |
| First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. | ||
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Lopez M, Seidel V, Santibanez P, Cervera-Acedo C, Castro-de Castro P, Dominguez-Garrido E. BMC Med Genet. 2016;17(1):97. |
||
| 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. | ||
|
26603346 |
FEMALE | Child |
| Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. | ||
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Kamenarova K, Simeonov E, Tzveova R, Dacheva D, Penkov M, Kremensky I, Perenovska P, Mitev V, Kaneva R. Hum Pathol. 2016;47(1):144-9. |
||
| Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder (prevalence, 1:125000-720000) characterized by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa, and short stature. | ||
|
22244492 |
FEMALE | |
| Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. | ||
|
Gunashekhar M, Hameed MS, Bokhari SK. Prim Dent Care. 2012;19(1):35-8. |
||
| Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). | ||
|
22244492 |
FEMALE | |
| Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. | ||
|
Gunashekhar M, Hameed MS, Bokhari SK. Prim Dent Care. 2012;19(1):35-8. |
||
| Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). | ||
|
21448332 (3065314) |
FEMALE | Infant, Newborn |
| Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome. | ||
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Akn MA, Gunes T, Akn L, Coban D, Oncu SK, Kiraz A, Kurtoglu S. J Clin Res Pediatr Endocrinol. 2011;3(1):32-5. |
||
| Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. | ||
|
20940508 |
MALE | Adult |
| [Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report]. | ||
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Ishizaka S, Sou G, Morofuji Y, Hayashi K, Kitagawa N, Tateishi Y, Morikawa M, Suyama K, Nagata I. Brain Nerve. 2010;62(10):1083-8. |
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| The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. | ||
|
19938080 |
MIXED_SAMPLE | Infant, Newborn |
| Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. | ||
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Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJ, Dauwerse H, Gillessen-Kaesbach G, Hennekam RC, Passarge E. Am J Med Genet A. 2009;149A(12):2849-54. |
||
| The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. | ||
|
16759328 |
FEMALE | |
| Periodontal disease in a Rubinstein-Taybi syndrome patient: case report. | ||
|
Freitas NM, Imbronito AV, La Scala CS, Lotufo RF, Pustiglioni FE. Int J Paediatr Dent. 2006;16(4):292-6. |
||
| Rubinstein-Taybi syndrome (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched palate, and recurrent respiratory infections. | ||
|
15832359 |
MIXED_SAMPLE | Adult |
| Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. | ||
|
Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Am J Med Genet A. 2005;135(2):130-3. |
||
| Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and mental retardation. | ||
|
16435638 |
FEMALE | Child |
| Dental treatment of a child with Rubinstein-Taybi syndrome. | ||
|
Davidovich E, Eimerl D, Peretz B. Pediatr Dent. 2005;27(5):385-8. |
||
| Rubinstein-Taybi syndrome (RTS) is a human genetic disorder characterized by mental retardation and physical abnormalities including broad thumbs, big and broad toes, short stature, and craniofacial anomalies. | ||
|
15904435 |
MALE | |
| Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia. | ||
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Muneuchi G, Kogure T, Sano N, Hamamoto Y, Kishikawa Y, Tamai M, Igawa HH. Congenit Anom (Kyoto). 2005;45(2):65-6. |
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| Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. | ||
|
15904435 |
MALE | |
| Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia. | ||
|
Muneuchi G, Kogure T, Sano N, Hamamoto Y, Kishikawa Y, Tamai M, Igawa HH. Congenit Anom (Kyoto). 2005;45(2):65-6. |
||
| Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. | ||
|
14871325 |
MALE | |
| A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. | ||
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Balci S, Bostanci S, Ekmekci P, Cebeci I, Bokesoy I, Bartsch O, Gurgey E. Pediatr Dermatol. 2004;21(1):44-7. |
||
| Rubinstein-Taybi syndrome (RTS) is a well-known disorder characterized by growth and mental retardation, typical facial features, short stature, and broad thumbs and toes. | ||
|
11809612 |
FEMALE | Adult |
| Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). | ||
|
Kanitakis J, Claudy A. Eur J Dermatol. 2002;12(1):107, 108-9. |
||
| Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). | ||
|
11809612 |
FEMALE | Adult |
| Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). | ||
|
Kanitakis J, Claudy A. Eur J Dermatol. 2002;12(1):107, 108-9. |
||
| Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). | ||
|
11207968 |
MALE | Child |
| Rubinstein-Taybi syndrome with epidermal nevus: a case report. | ||
|
Schepis C, Greco D, Siragusa M, Batolo D, Romano C. Pediatr Dermatol. 2001;18(1):34-7. |
||
| We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). | ||
|
11715398 |
FEMALE | Infant |
| [Dermatological stigmata in Rubinstein-Taybi syndrome]. | ||
|
Harth W, Linse R. Hautarzt. 2001;52(10 Pt 2):977-9. |
||
| The clinical features of the Rubinstein-Taybi syndrome include mental deficiency and broad thumbs and toes. | ||