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Table 8 Reported malformations in the literature

From: The complete European guidelines on phenylketonuria: diagnosis and treatment

Malformations

 

Congenital heart defects

- Tetralogy of Fallot

- ventricular septal defect

- mitral/aortic stenosis

- patent ductus arteriosus

 

Dysmorphology

- microcephaly

- coloboma

- malformed eyelid, ptosis

- hypertelorism

- cleft palate

- malformed ears

- simian creases

- fused digits

- widely spaced toes

 

Other:

- anencephaly

- oesophageal atresia

- renal agenesis, Potter syndrome

- hypospadias

- hydrocele

- anal fistula, anal atresia

 
  1. Reported in the MPKUCS [323] and case reports