Malformative associations

• duodenal atresia and biliary atresia
  4 August 2007

  Types
  Martínez-Frias syndrome (#17321227#)
  duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities (#16957470#)
  References
  Galan-Gomez E, Sanchez EB, Arias-Castro S, Cardesa-Garcia JJ. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome. Eur J Med Genet. 2007 Mar-Apr;50(2):144-8. PMID: #17321227#
  Maegawa GH, (...)

• duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities
  4 August 2007

  Synopsis
  dysmorphic facial features
  coarse facial features
  mandibulofacial dysostosis bilateral microtia absence of external auditory meati Mondini dysplasia
  external, middle and internal ear anomalies
  thyroid malformation
  duodenal atresia
  intestinal malrotation
  intrahepatic and extrahepatic biliary atresia
  anterior displacement of the anus (anterior anus)
  left hemiaplasia of the thyroid
  biliary atresia in sibs
  References
  Maegawa GH, Chitayat D, Blaser S, Whyte H, (...)

• unilateral renal agenesis with congenital bilateral absence of the vas deferens
  11 May 2007

  Synopsis
  congenital bilateral absence of the vas deferens (CBAVD)
  unilateral renal agenesis
  References
  McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod. 2001 Feb;16(2):282-8. PMID: #11157821#

• arhinia-choanal atresia-microphthalmia syndrome
  24 April 2007

  Bosma syndrome

• STRA6-associated syndrome
  27 March 2007

  STRA6-associated association

• horseshoe kidney with anorectal agenesis
  24 March 2007

  See also
  horseshoe kidney
  anorectal agenesis
  malformative associations

• amelia and anal atresia
  23 March 2007

  Synopsis
  amelia
  anal atresia
  kidney agenesis
  cardiac malformations (heart defects)
  Differential diagnosis
  VACTERL association
  References
  Lurie IW. Association of amelia and anal atresia is separate from VACTERL association. Clin Dysmorphol. 2000 Jan;9(1):71. PMID: #10649805#

• bilateral upper limb amelia, facial clefts, and renal hypoplasia
  23 March 2007

  Synopsis
  bilateral upper limb amelia
  facial clefts
  bilateral renal hypoplasia
  See also
  malformative associations
  References
  Pierri NB, Lecora M, Passariello A, Scala I, Andria G. New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. Am J Med Genet. 2000 Mar 13;91(2):123-5. PMID: #10748410#

• bilateral renal agenesis and phocomelia
  23 March 2007

  Synopsis
  fetal bilateral renal agenesis (#14745934#)
  upper limb reduction defect (#14745934#)
  single umbilical artery (#14745934#)
  Hypothesis
  vascular disruption syndromes maternal cocaine abuse (#14745934#)
  References
  Kashiwagi M, Chaoui R, Stallmach T, Hurlimann S, Lauper U, Hebisch G. Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy. Birth Defects Res A Clin Mol Teratol. 2003 Nov;67(11):951-2. PMID: (...)

• pleuropulmonary blastoma and cystic nephroma association
  21 March 2007

  PPBCN association

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