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Table 5 Number of individual congenital anomalies among children with NF1

From: Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

Congenital anomaly

Number

Eye, ear, face and neck

 Coloboma of iris

1

 Ptosis

2

Circulatory system

 Ventricular septal defect

1

 Patent ductus arteriosus (gestational age ≥ 37 weeks)

2

 Subvalvular aortic stenosis

1

 Aortic valve insufficiency

1

 Ostium secundum atrial septal defect

1

 Pulmonary valve stenosis (gestational age ≥ 37 weeks)

2

 Arteriovenous malformation of brain

1

Other digestive system

 Anorectal atresia with fistula

1

Urinary system

 Hydronephrosis (dilatation >10 mm)

3

 Double ureter

1

Musculoskeletal system

 Polydactyly

5

 Syndactyly

2

 Craniosynostosis (middle sagittal suture)

1

Other

 Fetal alcohol syndrome

1