Malformative associations

• acrorenal malformation association
  6 April 2006

  acrorenal malformative association

• midline defect associations
  28 March 2006

  Types
  spina bifida-omphalocele association
  Etiology
  trisomy 18
  References
  Khoury MJ, Cordero JF, Mulinare J, Opitz JM. Selected midline defect associations: a population study. Pediatrics. 1989 Aug;84(2):266-72. PMID: #2748254#

• radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst association
  13 March 2006

  Gershoni-Baruch syndrome

• sirenomelia and situs anomalies
  13 March 2006

  sirenomelia and situs inversus. sirenomelia and heterotaxy

• GAESBO
  9 February 2006

  gonadal agenesis, encephalocele, spina bifida, omphalocele (GAESBO)

• dextrocardia-cystic renal dysplasia association
  5 January 2006

  Kramer-Zucker et al. recently showed that cilia of larval zebrafish kidney tubules have a 9+2 configuration and are motile. Disruption of cilia structure or motility resulted in pronephric cyst formations, with left-right asymmetry defects.
  nephronophthisis type 2 (NPHP2) is caused by germline mutations in the inversin gene (INVS) (MIM.243305)(#12872123#)
  Mutations in INVS in infantile NPHP that results in both situs inversus and cardiac septal defects in humans, mice and zebrafish. (...)

• spina bifida-omphalocele association
  15 December 2005

  omphalocele-spina bifida association

• VACTERL-H
  19 April 2005

  VATER association with hydrocephaly, VACTERL association with hydrocephaly

• MURCS association
  13 October 2004

  MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia)

• malformative associations
  13 October 2004

  Exemples
  CHARGE association
  MURCS association (MIM.601076)
  VATER association (VACTERL association)
  CGH
  16.3% of genomic rearrangements (#15689449#)
  References
  Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet. 2005 Feb;42(2):121-8. PMID: (...)

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