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Case #10299 - Hydrocephaly with polymalformative syndrome

Wednesday 22 November 2006

fetus, 20 weeks; 46,XY

Synopsis

- cystic hygroma
- fetal hydrops

- facial dysmorphism

  • frontal bossing
  • turricephaly
  • hypertelorism
  • micrognathia
  • microphtalmy
  • low-set ears
  • small mouth
  • long philtrum

- cleft palate without cleft lip

- ventricular septal defect

- esophageal atresia with tracheo-esophageal fistula type C

- no pulmonary lobation

- horseshoe kidney

- fetal dysmotricity sequence

  • distal arthrogryposis of the four limbs
  • fetal tonus anomalies
    • fetal proximal extension/distal flexion

- cerebral malformations

  • obstructive hydrocephaly
  • severe bulbar pyramid agenesis
  • dento-olivaire dysplasie

- upper limb anomalies

  • right club hand
  • right first metacarpial hypoplasia
  • bilateral thumb hypoplasia
  • right fifth finger hypoplasia
  • right fifth finger clinodactyly
  • left fifth finger hypoplasia

- upper limb anomalies

  • club feet
  • toes plantar hyperflexion

- gracile ribs
- small ilia

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