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Table 1 Clinical phenotypes of the twins and previously reported cases with MYH11 variants

From: Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes

Clinical phenotypes

II-1

II-2

Previously reported cases

Prenatal stage

   

Intrauterine growth retardation

+

-

 

Bilateral lateral ventricle dilation

+

-

[26]

Persistent left superior vena cava

+

-

 

Neonatal stage

   

Premature infant

+

+

[26, 27]

Twin-to-twin transfusion syndrome

+

+

 

Neonatal respiratory distress syndrome

+

+

[26, 27]

Neonatal asphyxia

+

+

 

Neonatal pneumonia

+

+

 

Neonatal anemia

+

+

 

Persistent pulmonary hypertension

+

+

[26]

Hyperbilirubinemia

+

+

 

Patent ductus arteriosus

+

+

[12, 14, 19, 21, 26]

Hypocalcemia

+

+

 

Congenital pulmonary fibrosis

+

-

 

Mixed acid–base imbalance

+

+

 

Neonatal septicemia

+

-

 

Respiratory failure of newborn

+

-

 

Cardiac failure

+

-

 

Bronchopulmonary dysplasia

-

+

[26]

Redundant sigmoid colon

-

+

[26]

Other common phenotypes

   

Visceral myopathy 2

-

-

[14, 15, 28]

Thoracic aortic aneurysm/dilation

-

-

[19]

Megacystis–microcolon–intestinal hypoperistalsis syndrome

-

-

[26]

Intracranial vascular malformations

-

-

[12, 21]