Types
MartÃnez-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, (...)
Home > Keywords > Malformations > Malformative associations
Malformative associations
Articles
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duodenal atresia and biliary atresia
4 August 2007 -
omphalocele, short limbs, and macrogonadism
31 August 2007exomphalos, short limbs, and macrogonadism
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severe combined immunodeficiency syndrome with autosomal recessive familial multiple gastrointestinal atresias
5 August 2007SCID with autosomal recessive familial multiple gastrointestinal atresias
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duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities
4 August 2007Synopsis
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 2006See also
sirenomelia
ectrodactyly
radial ray defects -
intestinal atresia with apple-peel syndrome, ocular anomalies, and microcephaly syndrome
5 August 2007See 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 2007association tibial agenesis-ectrodactyly, split-hand/foot malformation with long bone deficiency type 1 (SHFLD1)
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neonatal diabetes with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia
4 August 2007Synopsis
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 2007CCGE, ACFS, acrocardiofacial syndrome, acro-cardio-facial syndrome
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acrorenal malformation association
6 April 2006acrorenal malformative association
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