Disease

Articles

• Griscelli disease
  17 September 2003

  Griscelli syndrome

• amniotic band sequence
  10 January 2005

  ABS, congenital constriction band sequence (CCBS), amniotic band syndrome, amniotic rupture sequence, amniotic membrane sequence

• fetal akinesia sequence
  2 November 2004

  Pena-Shokeir syndrome type I, Pena-Shokeir syndrome, fetal akinesia deformation sequence, FADS, FAS, arthrogryposis multiplex congenita with pulmonary hypoplasia, fetal akinesia deformation sequence, fetal akinesia/hypokinesia sequence, multiple pterygium syndrome

• zygomycoses
  9 November 2005

  mucormycosis, zygomycosis, Mucorales infection
  Definition: Zygomycoses are angioinvasive fungal infections due to fungi belonging to the genera of Mucorales (Rhizopus sp., Mucor sp., Rhizomucor sp., Absidia sp., Apophysomyces sp., Cunninghamella sp., and Saksenaea sp.)
  Zygomycosis (or mucormycosis) describes in the broadest sense any infection due to a member of the Zygomycetes.
  Images
  Zygomycosis
  https://twitter.com/phmckee1948/status/881039185947144194
  Angioinvasive zygomycosis (...)

• diaphanospondylodysostosis
  30 December 2011

  DSD
  Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder.
  The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue.
  Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears.
  The most commonly described extraskeletal finding is nephroblastomatosis (...)

• subcutaneous fat necrosis of the newborn
  11 June 2004

  Cutaneous fat necrosis of the newborn
  Definition: Subcutaneous fat necrosis of the newborn (SCFN) is a rare disorder with different etiologies. There are no epidemiologic data available for SCFN.
  Images
  Subcutaneous fat necrosis of newborn : lobular panniculitis with needle-shaped clefts in radial array
  https://twitter.com/JJSpeiserMD/status/793158471533338624
  Clinical synopsis
  Subcutaneous fat necrosis of the newborn (SCFN) is characterized by painful, firm, erythematous nodules (...)

• familial adenomatous polyposis
  20 November 2003

  adenomatous polyposis, FAP

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