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Table 2 The manifestations of RSTS between the literature and the patient presented in this paper

From: De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Manifestations

RSTS

Patient

Literatures

Eye

 

Refraction

+

+

[1, 4]

Strabismus

+

+

[1, 4]

Ptosis

+

-

[1, 4]

Nasolacrimal duct obstruction

+

-

[1, 9, 10]

Cataracts

+

-

[1, 4, 10]

Coloboma

+

-

[1, 8]

Nystagmus

+

-

[1]

Glaucoma

+

-

[1]

Corneal abnormalities

+

-

[4, 8]

Retinal abnormalities

+

-

[10]

Face

 

Microcephaly

+

+

[6, 11, 12, 16]

Arched eyebrows

+

+

[1, 4, 6]

Down-slanting palpebral

fissures

+

Mild

[1, 6, 11, 16]

Long eyelashes

+

+

[6]

Low-hanging columella

+

+

[1, 6, 11, 16]

High palate

+

-

[1, 4, 6]

Grimacing smile

+

-

[1, 6]

System

 

Obesity

+

+

[1, 6]

Intellectual disability

+

+

[1, 4, 6, 12]

Broad and angulated thumbs/halluces

+

Mild

[1, 4, 6, 8, 11, 12]

Congenital heart disease

+

-

[1, 6, 12, 16]

Pneumonia

+

+

[1, 4, 8]

Undescended testicles

+

-

[1, 4, 8, 12]

Constipation

+

+

[1, 4]

Keloids

+

-

[1, 6, 29]

Decreased social interaction

+

+

[1]

Speech difficulties

+

+

[1, 12]

Instability of mood

+

+

[4]

  1. RSTS : Rubinstein-Taybi syndrome