Martinez-Frias syndrome
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#