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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Di George syndrome
Marta Ježová
Introduction

This syndrome occurs relatively often. Characteristic are serious congenital heart defects and immunodeficiency.

Etiology, pathogenesis
  • incidence: 1 : 6000 – 8000
  • genetics: microdeletion of the long arm of the 22nd chromosome
  • disorder of the embryonal development of the 3rd and 4th branchial arch, pouches and their derivates
Clinical signs
  • external features of the face:
    • hypertelorism
    • small recessive chin and mouth
    • narrow philtrum
    • backwards rotated auricles
  • severe hypoplasia or agenesis of the thymus
  • T cell immudeficiency: predisposion to diseminated viral and mycotic infections
  • agenesis of the parathyreoid glands: hypocalcemia, spasms of the newborn
  • congenital malformation of the palate: cleft palate, more often incomplete, ev. only cleft uvula
  • serious congenital heart defects, conotruncal defects (related to the outlet tract):
    • tetralogy of Fallot
    • ventricular septal defect
    • interruption of the aortic arch
    • pulmonary atresia
    • truncus arteriosus
    • double outlet right ventricle
    • transposition of the great arteries
  • syndrome shortcut: CATCH 22:
    • Cardiac defects
    • Abnormal facies
    • Thymic agenesis
    • Cleft palate
    • Hypocalcemia
    • 22 del
  • mortality: because of the heart defect it is about 8%
Case study
Syndrom Di George 1
Marta Ježová
History

20-week fetus, Di George (tetralogy of Fallot, hypoplastic thymus, cleft palate, abnormal face — small ears, cleft lip, del 22).

Pictures

Di George syndrome, cleft lip, microtia: Di George's syndrome, Macro, autopsy (72414)

Cleft lip, detail: Di George's syndrome, Macro, autopsy (72415)

Microtia, detail: Di George's syndrome, Macro, autopsy (72416)

Thymus hypoplasia, Di George syndrome: Di George's syndrome, Macro, autopsy (72417)

Di George syndrome, Fallot tetralogy: Di George's syndrome, Fallot's tetralogy, Macro, autopsy (72418)

Tetralogy of Fallot at Di George syndrome: Di George syndrome, Macro, autopsy (73182) Di George syndrome, Macro, autopsy (73183) Di George syndrome, Macro, autopsy (73184) Di George syndrome, Macro, autopsy (73185) Di George syndrome, Macro, autopsy (73186) Di George syndrome, Macro, autopsy (73187) Di George syndrome, Macro, autopsy (73188)

Case study
Di George syndrome 2
Marta Ježová
History
  • by routine ultrasound examination the congenital heart defect was found and consequently confirmed by the specialized cardiologic clinic
  • congenital malformation according to the clinicians: double outlet right ventricle, defect of the ventricular septum with aorta overriding the defect
  • cordocenthesis: karyotype 46XY, microdeletion 22q11 – 13
Clinical signs
  • Dg: Di George syndrome
  • pregnancy termination at 24 week of gestation
Macroscopic appearance
  • male 24th – 25-week fetus, weight 750 g, length 34.5 cm
  • mild micrognathia, palate is normal
  • agenesis of the thymus
  • complex congenital heart defects:
    • dextrocardia
    • perimembranous ventricular septal defect
    • valvular stenosis of the aorta, bicuspid valve
    • interruption of the aortic arch distal to a. carotis communis sinistra
    • leftsided vena cava superior
  • congenital malformation of the urogenital tract: left sided hydronephrosis
Conclusion

Interruption of the aortic arch is defect typical for the Di George syndrome. The ascending aorta is interruped in the arch usually distal to the a. carotis communis sin. The inflow of blood to the thoracic aorta is enabled only by patent ductus arteriosus. It is a critical heart defect with early neonatal manifestation.

Pictures

Face of a fetus: Di George's syndrome, Macro, autopsy (72363)

Agenesis of the thymus: Di George's syndrome, agenesis of the thymus, Macro, autopsy (72364)

Dexterocardia: Di George's syndrome, destrocardia, Macro, autopsy (72365) Di George's syndrome, destrocardia, Macro, autopsy (72366)

Perimembranous defect of the ventricular septum, view from the right ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72367)

Defect of the ventricular septum, view from the left ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72368)

Aorta, the branches are open before the interruption of the aortic arch: Di George's syndrome, Macro, autopsy (72369) Di George's syndrome, Macro, autopsy (72370)