Rare Diseases Symptoms Automatic Extraction

[Epidermolysis bullosa simplex congenital antenatal discovery and contribution of 3D ultrasound].

[epidermolysis bullosa simplex]

Epidermolysis bullosa (EB) comprises a heterogeneous group of genodermatoses whose prognosis is variable. The diagnosis is suggested by prenatal ultrasound at signs, especially for junctional EB with pyloric atresia. The authors report a case of antenatal image limited skin undermining highlighted by the ultrasound three-dimensional (3D) in connection with a diagnosis of a congenital epidermolysis simplex confirmed postnatal period.

Diseases presenting "prenatal ultrasound" symptom

  • achondroplasia
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • holt-oram syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • wolf-hirschhorn syndrome

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