Rare Diseases Symptoms Automatic Extraction

A short history of the initial discovery of the Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications.

Diseases presenting "second case" symptom

  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • coats disease
  • cutaneous mastocytosis
  • esophageal adenocarcinoma
  • fabry disease
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • legionellosis
  • malignant atrophic papulosis
  • omenn syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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