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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