Rubinstein-Taybi-Syndrom

Rubinstein-Taybi

syndrome with scoliosis. Preoperative full-length spine radiographs. Left: standing, Right: traction.

scoliosisjournal.biomedcentral.com • CC-by-2.0

Novel cAMP

binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. This hand wrist radiograph was made when she was 14 years old. The arrow shows a duplication of terminal phalanx of the thumb.

bmcmedgenet.biomedcentral.com • CC-by-2.0

Rubinstein-Taybi

syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report. X-rays of the hands. The angulated thumbs are caused by a delta-phalanx

bmcmedgenet.biomedcentral.com • CC-by-4.0

Surgical

treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. Pre-operative(A)postero-anterior and(B)lateral radiographs of the spine show a very severe double thoracic scoliosis producing thoracic translocation and spinal decompensation to the right with a marked ipsilateral rib hump and waistline asymmetry.(C) Postero-anterior and (D) lateral radiographs of the spine at latest follow-up show excellent scoliosis correction across both thoracic curves and an overall balanced spine in the coronal and sagittal planes.

jmedicalcasereports.biomedcentral.com • CC-by-4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.

Epidemiology

The estimated incidence is 1 in 100,000-125,000 live births .

Clinical presentation

The presence of a syndrome is usually evident at birth and becomes more obvious with increasing age as developmental delay becomes more pronounced. Features include :

facial appearance
- high arched eyebrows
- long eyelashes
- down-slanting palpebral fissures
- broad nasal bridge/beaked nose
- high arched palate
- mild micrognathia
- unusual facial expression: the grimacing or at least unusual smile with an almost closing of the eyes
- talon cusps of the permanent incisors
limbs
- broad thumbs and broad big toes (almost always present)
- partial duplication of the first ray (hands or feet)
- radially deviated thumbs and halluces
- broadening of the terminal phalanges of the fingers
- persistent fetal pads
- clinodactyly of the fifth fingers
skull and central nervous system
- microcephaly
- intellectual retardation (IQ 35-50)
congenital cardiac abnormalities: reported in up to 33% of affected patients
hirsutism

Pathology

Most cases are thought to be sporadically deriving from de novo mutations at a locus on band 16p13.3, which encompasses the gene for the transcription co-factor cyclic adenosine monophosphate response element-binding protein-binding protein.

Other cases are due to a mutation in either CREB-binding protein (CBP) or E1A-binding protein (p300) .

Radiographic features

The radiology reflects the morphological abnormalities described above, particularly of the face, skull and limbs.

Treatment and prognosis

Despite an increased risk of developing intracranial tumors (meningioma and other brain tumors), and leukemia (which tend to occur before 15 years of age) life expectancy appears to be normal .

While significant advances in the knowledge of clinical manifestations and natural history of RTS have been made, guidelines for the healthcare and follow-up care of RTS have not been well updated after the proposal of Wiley et al. in 2003 .