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

Friday 10 November 2006

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

Portfolio

  • Hepatic deformation
  • Nephromegaly without renal dysplasia
  • Bilateral diaphragmatic defect
  • Bilateral pulmonary hypoplasia
  • Clinodactyly