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Table 1 Extra skeletal features in the patients with SATB2 variants

From: SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

Patient

Features of Pierre Robin sequence

Dental abnormalities

Behavioral disorders

Intellectual disability

Speech disorders

Speech delay

SATB2-01-P1

Yes

Hypodontia

No

Yes

Yes

SATB2-01-P2

No

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P3

No

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P4

No

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P5

No

Macrodontia

No

Yes

Yes

SATB2-01-P6

No

Macrodontia

No

Yes

Yes

SATB2-01-P7

Yes

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P9

No

Macrodontia

No

Yes

Yes

SATB2-01-P10

Yes

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P11

No

Macrodontia

No

Yes

Yes

SATB2-01-P12

Yes

Macrodontia

Autism spectrum disorder

Yes

Yes

SATB2-01-P13

Yes

Yes

No

Yes

Yes

SATB2-02-P1

No

Hypondotia

No

Yes

Yes

SATB2-04-P1

Yes

Yes

Yes

Yes

Yes

SATB2-05-P1

No

Yes

No

Yes

Yes

SATB2-06-P1

No

Yes

Autism spectrum disorder

Yes

Yes

SATB2-06-P2

No

Yes

Autism spectrum disorder

Yes

Yes

SATB2-07-P1

No

Yes

mild

Yes

Yes

SATB2-08-P1

No

No

No

Yes

Yes