Case #10143 - Bilateral diaphragmatic hernia, aortic coarctation and nephromegaly

Synopsis

 complete agenesis of left hemidiaphragm
 partial agenesis of right hemidiaphragm

• left diaphragmatic hernia sequence (DHS)
  • bilateral pulmonary hypoplasia
  • dextrocardia
  • intrathoracic abdominal organs
    • intrathoracic left hepatic lobe

• • intestinal malrotation

 aortic preductal coarctation

 muscular interventricular defect (2mm diameter)

 nephromegaly

 transverse palmar crease
 slight clinodactyly

 slight micrognathia
 low implantation of hair

Etiology

 Fryns syndrome ?

See also

 Malformations
 malformative syndromes
 malformative associations