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 "facial features" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • cadasil
  • cohen syndrome
  • dentinogenesis imperfecta
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • severe combined immunodeficiency
  • triple a syndrome
  • wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom