Table 1 Summary of clinical features from the literature review of 32 cases and present case

11q13-q23.2

0,743-35

13/18

prenatal-38yrs

Major malformation

Present case

Minor anomalies

Present case

Medical complications

Present case

Trigonocephaly

4

-

Prominent forehead

4

-

Hypotonia

7

-

Dolichocephaly

2

-

Round face

2

-

Strabism

3

-

Brain anomalies

6

-

Uni/bilateral eyelids Ptosis

6

-

Myopia

2

+

Kidney anomalies

4

-

Up-slanted palpebral Fissures

7

-

Seizures

6

-

Submucous cleft palate

7

+

Periorbital fullness

3

-

Heart defect

4

-

Epi/telecanthus

6

-

Others

Genital anomalies

3

-

Hypertelorism

9

-

Microcephaly

3

-

Uni/bilateral club foot

4

-

Ears anomalies

13

-

Growth retardation

9

+

Iris and chorioretinal coloboma

2

-

Nose anomalies

12

+

Developmental delay

19

+

Retinal dysgenesis/bilateral exudative vitreoretinopathy

4

-

Full cheeks

4

-

Hyperactive behavior

3

-

High arched palate

8

-

Sociable personality

4

-

Mouth anomalies

11

-

Micro/retrognathia

9

+

Minor skeletal anomalies

12

-