Rubinstein-Taybi syndrome and spontaneous keloids

Goodfellow, Angela; Emmerson, R.W.; Calvert, H. T.

doi:10.1111/j.1365-2230.1980.tb01718.x

Cited by 36 publications

(27 citation statements)

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“…5 Other physical findings may include eye anomalies (nasolacrimal duct obstruction, ptosis of eyelids, congenital or juvenile glaucoma, and refractive errors), a variety of congenital heart defects, joint hypermobility, and skin anomalies (hirsutism, naevus flammeus on the forehead, and keloid formation). 6,7 Global mental retardation is characteristic with an average IQ between 35 and 50, but a cognitive functioning outside these limits does occur. 8 Although the cognitive delay is usually expressed, they have a marked ability to establish excellent social contacts.…”

Section: Clinical Overviewmentioning

confidence: 99%

Rubinstein–Taybi syndrome

2006

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Section: Clinical Overviewmentioning

confidence: 99%

Rubinstein–Taybi syndrome

2006

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“…6,8,[10][11][12][13][18][19][20][21][22][23] For the patient characteristics see Table 1. 6,8,[10][11][12][13][18][19][20][21][22][23] For the patient characteristics see Table 1.…”

Section: Literaturementioning

confidence: 99%

Keloids in Rubinstein–Taybi syndrome: a clinical study

et al. 2014

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“…Other physical findings may include a variety of congenital heart defects, joint hypermobility and skin anomalies (hirsutism, naevus flammeus on the forehead, and keloid formation) [3]. Mental retardation is usual with an average IQ between 35 and 50, but cognitive functioning outside these limits may occur [4].…”

Section: Introductionmentioning

confidence: 99%

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

et al. 2013

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BackgroundRubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%).Case presentationWe describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC).ConclusionWe hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.

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Rubinstein-Taybi syndrome and spontaneous keloids

Cited by 36 publications

References 1 publication

Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome

Keloids in Rubinstein–Taybi syndrome: a clinical study

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

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