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Table 3 Medical findings in individuals with FOXP1 syndrome

From: Prospective investigation of FOXP1 syndrome

Medical feature

S1

S2

S3

S4

S5

W1

W2

W3

W4

Total (%)

Cardiac

 Congenital heart defect

+a

+b

2/9 (22%)

 Abnormal electrocardiogram

n/a

n/a

n/a

+

n/a

n/a

n/a

n/a

1/2 (50%)

Sinopulmonary

 Recurrent otitis media

+

+

+

+

+

+

6/9 (67%)

 Recurrent upper respiratory tract infections

+

+

+

+

4/9 (44%)

 Neuroendocrine hyperplasia of infancy

+

1/9 (11%)

 Pulmonary hypertension

+

1/9 (11%)

Urinary tract

 Genitourinary abnormalities

+

n/a

1/8 (13%)

Endocrine

 Body mass index (percentile for age)

27.8

85.8

69.8

82.1

58.7

20.2

15.4

19.7

n/a

 

 Overweight

+

n/a

1/8 (13%)

 Hypothyroidism

+

1/9 (11%)

 Diabetes mellitus

+

1/9 (11%)

Other medical

 Constipation

+

+

+

+

4/9 (44%)

 Skin infections

+

+

2/9 (22%)

 Allergies

+

+

2/9 (22%)

 Iron deficiency

+

+

2/9 (22%)

 Visual refractive error

+

+

+

+

+

5/9 (56%)

 Strabismus

+

+

+

+

+

5/9 (56%)

  1. aPulmonary valve stenosis
  2. bPatent ductus arteriosus discovered at 14 months that resolved without intervention
  3. n/a information not available