Malformative associations

• Fraser-Jequier-Chen syndrome
  12 January 2007

  Synopsis
  chondrodysplasia
  situs inversus totalis
  cleft epiglottis and larynx
  hexadactyly of hands and feet
  pancreatic cystic dysplasia (pancreatic dysplasia, pancreatic dysgenesis)
  bilateral non-obstructive multicystic renal dysplasia (BNOMRD)
  renal agenesis
  micropenis and ambiguous genitalia, imperforate anus) (#2596528#)
  See also
  malformative syndromes
  References
  Fraser FC, Jequier S, Chen MF. Chondrodysplasia, situs inversus totalis, cleft (...)

• multicystic renal dysplasia with situs inversus totalis
  12 January 2007

  bilateral non-obstrcuctive multicystic renal dysplasia and heterotaxy (heterotaxia), BNOMRD and heterotaxy, BNOMRD and situs inversus totalis

• association Hirschsprung disease-neuroblastoma
  19 December 2006

  Synopsis
  familial neuroblastoma (#8950328#)
  hypoventilation (Ondine syndrome)
  Etiology
  germline PHOX2B mutations
  References
  Trochet D, O’Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005 Mar;76(3):421-6. PMID: #15657873#
  Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville (...)

• polysplenia and hypoplastic left heart association
  8 December 2006

  polysplenia and hypoplastic left heart syndrome

• TACRD association
  1 December 2006

  TACRD association is an extremely rare condition composed of tracheal agenesis, cardiac, renal and duodenal malformations. It is distinct from the more common VACTERL association of which tracheo-esophageal fistula and not tracheal agenesis is a part.
  TACRD association has complex internal malformations and lacks the external skeletal manifestations of VACTERL association.
  Synopsis
  tracheal agenesis
  cardiac
  renal
  duodenal malformations
  Differential diagnosis
  VACTERL association (...)

• male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia
  9 November 2006

  Synopsis
  male pseudohermaphroditism
  left ventricle hypoplasia (hypoplastic left ventricle)
  pulmonary aplasia (lung aplasia)
  horseshoe kidney
  diaphragmatic hernia
  References
  Maaswinkel-Mooij PD, Stokvis-Brantsma WH. Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia. Am J Med Genet. 1992 Mar 1;42(5):647-8. PMID: (...)

• renal agenesis, ureteral ectopia into seminal vesicle, vas deferens agenesis and hemivertebra
  9 November 2006

  SYnopsis
  renal agenesis
  ureteral ectopia into seminal vesicle
  vas deferens agenesis
  hemivertebra
  See also
  caudal regression syndrome (CRS)
  References
  Aragona F, D’Urso L, Valotto C, Milani C, Calabro A. Renal agenesis, ureteral ectopia into seminal vesicle, vas deferens agenesis and hemivertebra: an incomplete form of caudal regression syndrome? Int Urol Nephrol. 1997;29(4):403-10. PMID: (...)

• anorectal agenesis with unilateral renal agenesis
  27 October 2006

  Comments: Urologic congenital anomalies are well known to be common in children with ano-rectal malformations. The higher the ano-rectal malformation; the higher the incidence of urologic anomalies (25-50%).
  Renal agenesis is observed in 8% of anorectal malformations.
  Case records
  Case 10645
  See also
  anorectal malformations
  VATER association (VACTERL association)

• lumbosacral agenesis with situs inversus totalis
  27 October 2006

  caudal regression syndrome with heterotaxy, lumbosacral agenesis with heterotaxy

• sirenomelia-ectrodactyly association
  29 May 2006

  See also
  sirenomelia
  ectrodactyly
  radial ray defects

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