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 "the condition" symptom

  • congenital adrenal hyperplasia
  • harlequin ichthyosis
  • kabuki syndrome
  • pyomyositis

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