Table 1 Clinical findings in the two 11p13 duplication patients with SRS features

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Growth

SGA*

Yes

Yes

Postnatal growth failure*

Yes

Yes

Feeding difficulties and/or lower BMI*

No

No

Facial gestalt

Relative macrocephaly*

Yes

No

Protruding forehead*

No

Yes

Triangular face

Yes

Yes

Retrognathia

Yes

No

Downturned corners of the mouth

Yes

No

Body/limbs

Body asymmetry*

Yes

Slight

Muscular hypotonia

Yes

No

Clinodactyly V

Yes

Yes

Scapular winging

Yes

Yes

Development

Psychomotoric delay

Yes

Yes

Speech delay

Yes

Yes

NHS score

4

3 (4)