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Martinez-Frias syndrome

Saturday 4 August 2007

The Martinez-Frias syndrome consisted of intra-uterine growth retardation (IUGR), intestinal atresia, gallbladder aplasia and diabetes mellitus.

Synopsis

- low birth weight
- duodenal atresia
- intestinal atresia
- extrahepatic biliary atresia
- gallbladder aplasia
- hypoplastic pancreas
- intestinal malrotation
- diabetes mellitus
- neonatal hemochromatosis (19887127)

See also

- blastogenesis
- blastogenetic anomalies
- midline developmental duodenal-biliary-pancreatic junction

References

- Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Martinovici D, Ransy V, Serge Eijnden V, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J. Eur J Med Genet. 2009 Nov 1. PMID: 19887127

- 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