Rare Diseases Symptoms Automatic Extraction

Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.

[harlequin ichthyosis]

We describe a case of Harlequin Icthyosis where the main 2D and 3D ultrasound findings were digital contractures as opposed to the more commonly described severe facial dysmorphisms. A prenatal finding of distal arthrogryposis can therefore include harlequin icthyosis as a differential diagnosis, where 3D ultrasound may then disclose the facial features more commonly associated with the condition.

Diseases presenting "contractures" symptom

  • dentinogenesis imperfecta
  • dystrophic epidermolysis bullosa
  • harlequin ichthyosis
  • lamellar ichthyosis
  • proteus syndrome
  • triple a syndrome

This symptom has already been validated