Table 4 Clinical features. Coagulation defects were found out in 24 cases (multiple defects could be found in a single patient)

Coagulation defects

24

75%

Short stature

24

75%

Cryptorchidism

11

61%

Pectus excavatum

10

31%

Renal abnormalities

10

31%

Scoliosis

7

22%

Pterygium colli

6

19%

Refractive defects

6

19%

Lymphatic abnormalities

6

19%

Hypoacusia

5

16%

Psychomotor delay

4

13%

Pectus carinatum

3

9%

Intellectual disability

3

9%

Gastrointestinal symptoms

3

9%

Malignancies

2

6%

Benign tumors

2

6%

Hypothyroidism

2

6%

Arnold Chiari malformation

2

6%

Dental agenesis

1

3%

Choledochal cysts

1

3%