Malformative associations

Articles

• 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, (...)

• omphalocele, short limbs, and macrogonadism
  31 August 2007

  exomphalos, short limbs, and macrogonadism

• severe combined immunodeficiency syndrome with autosomal recessive familial multiple gastrointestinal atresias
  5 August 2007

  SCID with autosomal recessive familial multiple gastrointestinal atresias

• 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, (...)

• sirenomelia-ectrodactyly association
  29 May 2006

  See also
  sirenomelia
  ectrodactyly
  radial ray defects

• intestinal atresia with apple-peel syndrome, ocular anomalies, and microcephaly syndrome
  5 August 2007

  See also
  Feingold syndrome (NMYC haploinsufficiency)
  References
  Bellini C, Mazzella M, Arioni C, Fondelli MP, Serra G. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am J Med Genet. 2002 Jun 15;110(2):176-8. PMID: #12116257#

• split-hand/foot malformation with long bone deficiency type 1
  1 November 2007

  association tibial agenesis-ectrodactyly, split-hand/foot malformation with long bone deficiency type 1 (SHFLD1)

• neonatal diabetes with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia
  4 August 2007

  Synopsis
  neonatal diabetes mellitus
  pancreatic hypoplasia (hypoplastic pancreas)
  intestinal atresia
  gall bladder hypoplasia
  References
  Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia. 2004 Dec;47(12):2160-7. PMID: (...)

• cleft palate, cardiac defect, genital anomalies and ectrodactyly
  1 November 2007

  CCGE, ACFS, acrocardiofacial syndrome, acro-cardio-facial syndrome

• acrorenal malformation association
  6 April 2006

  acrorenal malformative association

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