Malformations

Articles

• splenogonadal fusion
  24 November 2005

  Digital slides
  NCK1-46 : Spleno-testicular fusion
  NCK1-45 : Spleno-testicular fusion
  Synopsis
  splenogonadal fusion
  elongated spleen connected with gonad (testsi or ovary) possible colonic compression or stricture
  splenic nodule on gonad
  continuous splenic tissue from left hypochondre to gonad
  Associations
  limb deficiency (#9386063#) ectromelia
  micrognathia (#9386063#)
  See also
  splenic malformations
  References
  Splenogonadal fusion with limb deficiency and (...)

• thymic aplasia
  1 November 2004

  thymic agenesis

• asplenia
  18 March 2005

  Synopsis
  recurrent invasive bacterial infections
  Howell-Jolly bodies in the blood smear
  relative with congenital isolated asplenia.
  Etiology
  isolated asplenia isolated congenital asplenia vanishing spleen and hyposplenism
  syndromic asplenia asplenia with situs ambiguus (heterotaxia) asplenia/polysplenia syndrome (Ivemark syndrome) (MIM.208530) deleted ring chromosome 4 (#8933346#)
  Associations
  cardiovascular malformations dextrocardia (#11105625#) transposition of the (...)

• ear anomalies
  31 August 2004

  Types
  ear malformations
  overfolding of superior helix
  large ears
  preauricular tags
  preauricular pits
  microtia
  satyr ear
  small ears
  lop ears
  Mondini defect
  abnormal middle ear ossicles
  pits in posterior aspect of ear helices
  cup pinna
  ear pits in upper anterior end of helix
  posteriorly angulated ears
  low-set ears
  inner ear lateral semicircular canal (LSC) anomalies
  external and middle ear anomalies
  preauricular tag
  deformed auricle
  stenotic (...)

• anorectal agenesis
  19 October 2004

  anorectal atresia

• rectourethral fistula
  6 April 2005

  recto-urethral fistula

• intestinal atresia
  9 February 2005

  jejunoileal atresia (JIA)

• congenital pouch colon
  18 December 2005

  CPC

• anterior anus
  12 December 2005

  anterior placement of anus

• rectoperineal fistula
  12 December 2005

  Association
  imperforate anus
  Etiology (Exemples)
  Townes-Brocks syndrome

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