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Table 2 Dysmorphic features associated with FOXP1 syndrome

From: FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Dysmorphic features

Pariani et al. [9]

Horn et al. [14]

Carr et al. [15]

Ţuţulan-Cunită et al. [16]

Palumbo et al. [17]

Le Fevre et al. [18]

Lloveras et al. [19]

Blanco Sánchez et al. [31]

Dimitrov et al. [20]

Song et al. [21]

Sollis et al. [22]

Sollis et al. [23]

Siper et al. [24]

Meerschaut et al. [11]

Myers et al. [25]

Johnson et al. [26]

Yamamoto et al. [27]

Vuillaume et al. [28]

Urreizti et al. [30]

Mutlu-Albayrak et al. [29]

Total (%)

Head and facial features

 Macrocephaly

-

-

-

-

-

1/1

-

-

-

-

-

1/3

4/8

-

-

1/1

-

-

1/1

1/1

9/59 (15%)

 Frontal hair upsweep

-

2/3

-

-

-

-

-

-

-

1/1

-

-

2/8

10/24

1/1

-

-

-

-

-

16/59 (27%)

 Prominent forehead

-

2/3

1/1

1/1

1/1

1/1

-

1/1

2/3

1/1

1/2

2/3

6/8

23/24

-

1/1

3/3

-

1/1

1/1

48/59 (81%)

 Flat midface

-

-

-

-

-

1/1

-

-

1/3

-

-

-

-

-

-

-

-

-

1/1

-

3/59 (5%)

 Long philtrum

-

-

-

-

-

-

-

-

-

-

-

-

3/8

-

-

-

-

-

-

-

3/59 (5%)

 Short philtrum

-

-

-

1/1

-

-

-

-

1/3

-

-

-

-

-

-

-

2/3

-

-

-

4/59 (7%)

 Pointed chin

-

-

-

 

1/1

-

-

-

-

-

-

-

1/8

9/22

-

1/1

-

-

-

-

12/57 (21%)

Eyes

 Epicanthal folds

1/1

-

-

1/1

-

-

-

-

-

-

-

-

3/8

-

-

-

-

-

-

-

5/59 (8%)

 Down slanted palpebral fissures

-

1/3

1/1

-

1/1

1/1

-

1/1

1/3

-

1/2

1/3

-

14/24

-

-

-

-

1/1

1/1

24/59 (41%)

 Short palpebral fissures

1/1

-

-

1/1

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

2/59 (3%)

 Ptosis

1/1

-

1/1

-

1/1

-

-

-

-

-

-

-

1/8

16/24

-

-

-

-

1/1

1/1

22/59 (37%)

 Hypertelorism

-

-

1/1

-

1/1

-

-

-

3/3

-

2/2

1/3

4/8

-

-

-

3/3

-

1/1

1/1

17/59 (29%)

 Blepharophimosis

1/1

-

-

-

-

-

-

-

-

-

-

-

-

4/24

-

-

-

-

-

-

5/59 (8%)

 Coloboma

-

-

-

-

-

-

-

-

2/3

-

-

-

-

-

-

-

-

-

-

-

2/59 (3%)

Ears

 Malformed ears

-

-

-

1/1

-

-

-

-

2/3

-

-

1/3

-

-

1/1

1/1

2/3

-

1/1

1/1

10/59 (17%)

Nose

 Short nose with broad tip

1/1

1/3

1/1

-

1/1

1/1

-

1/1

2/3

1/1

2/2

2/3

5/8

19/24

-

-

2/3

-

1/1

1/1

41/59 (69%)

 Broad nasal bridge

-

-

-

1/1

-

-

-

-

1/3

-

-

-

6/8

-

-

-

-

-

-

-

8/59 (14%)

Mouth

 Thick vermillion

-

-

-

-

1/1

-

-

-

-

-

-

-

3/8

14/24

-

-

-

-

-

-

18/59 (31%)

 High-arched palate

-

-

-

-

-

-

-

1/1

1/3

-

-

-

4/8

-

-

-

2/3

1/1

1/1

-

10/59 (17%)

 Malocclusion

-

-

-

-

1/1

-

-

-

-

-

-

-

3/8

-

-

-

-

-

-

-

4/59 (7%)

Extremities

 Hyperflexibility of joints

-

-

-

-

-

-

-

-

-

1/1

-

-

1/8

-

-

-

-

-

-

1/1

3/59 (5%)

 Clinodactyly

1/1

-

-

-

-

1/1

-

-

-

-

-

-

4/8

6/21

-

-

-

-

1/1

-

13/56 (23%)

 Single palmar crease

1/1

-

-

-

-

-

-

-

3/3

-

-

-

2/8

8/21

-

-

-

-

-

-

14/56 (25%)

 Prominent finger pads

-

-

1/1

-

-

1/1

-

-

-

-

-

1/3

-

2/22

1/1

-

-

-

-

-

6/57 (11%)

 Partial syndactyly 2nd and 3rd toes

-

-

-

-

-

-

1/1

-

-

-

-

-

1/8

-

-

-

-

-

-

1/1

3/59 (5%)

 Sandal gap

-

-

-

-

-

-

-

-

2/3

-

-

-

-

-

-

-

-

-

-

-

2/59 (3%)

Other

 Sacral dimple

-

-

-

-

-

-

-

-

2/3

-

1/2

-

1/8

-

-

-

-

-

-

-

4/59 (7%)

  1. “-” indicates absent or not reported
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Journal of Neurodevelopmental Disorders

ISSN: 1866-1955

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