Malformations

Articles

• mullerian agenesis
  22 December 2005

  Müllerian agenesis, syndrome de Rokitansky-Kuster-Hauser

• unilateral renal hypoplasia
  3 March 2005

  miniature kidney, doll kidney, vestpocket kidney

• bilateral renal hypoplasia
  3 March 2005

  Types
  bilateral renal hypoplasia with abnormal microscopy bilateral simple renal hypoplasia
  bilateral renal hypoplasia with abnormal microscopy bilateral oligomeganephronic renal hypolasia (oligomeganephronie)
  Differential diagnosis
  bilateral hypoplastic renal dysplasia (renal hypodysplasia)
  Etiology (exemples)
  chromosomal diseases trisomy 21 (15%) trisomy 22
  papillorenal syndrome (renal-coloboma syndrome) (...)

• solitary kidney
  3 February 2005

  unique kidney

• persistent renal lobulation
  16 January 2006

  persistence of renal lobulation

• streak kidney
  29 January 2005

  Variant of renal hypoplasia.
  See also:
  renal hypoplasia

• cleft lip/palate
  9 November 2004

  cleft lip and palate, orofacial cleft

• myelomeningocele
  12 January 2005

  meingomyelocele

• 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 (...)

• tooth agenesis
  5 April 2004

  Etiology
  mutations in AXIN2 in familial tooth agenesis (#15042511#)
  Physiopathology
  The formation of teeth is one example of the intricate cooperation of different genetic pathways that lead to the morphogenesis of human facial features. Animal studies have shown that tooth development requires a sequential array of epithelial-mesenchymal interactions involving many signaling molecules like growth factors and their receptors, transcription factors and further modifier proteins. (...)

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