Martínez-Frías syndrome

Classification according to ICD-10
Q45.8	Other specified congenital malformations of the digestive system
ICD-10 online (WHO version 2019)

The Martínez-Frías syndrome is a very rare congenital malformation with an underdevelopment of the pancreas combined with biliary atresia and malrotation .

Orphanet no longer treats the syndrome as an independent one, but rather under the Mitchell-Riley syndrome . However, in a published Martínez-Frías syndrome case could no mutations at RFX6 - gene , as in the Mitchell-Riley syndrome expected to be described. In this respect, it is not clear whether there are two separate clinical pictures.

Synonyms are: duodenal and extrahepatic biliary atresia - hypoplastic pancreas - intestinal malrotation

The first description comes from 1992 by the Spanish doctor María-Luisa Martínez-Frías and colleagues.

literature

L. Cruz, RE Schnur, EM Post, H. Bodagala, R. Ahmed, C. Smith, LB Lulis, GE Stahl, A. Kushnir: Clinical and genetic complexity of Mitchell-Riley / Martinez-Frias syndrome. In: Journal of perinatology: official journal of the California Perinatal Association. Volume 34, number 12, December 2014, pp. 948-950, doi: 10.1038 / jp.2014.162 , PMID 25421130 .
RV Patel, H. Kumar, B. More, A. Rajimwale: Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. In: BMJ Case Reports. Volume 2014, January 2014, S., doi: 10.1136 / bcr-2013-200477 , PMID 24464842 , PMC 3902341 (free full text).
D. Martinovici, V. Ransy, S. Vanden Eijnden, C. Ridremont, A. Pardou, M. Cassart, F. Avni, C. Donner, P. Lingier, A. Mathieu, B. Gulbis, V. De Brouckère, M. Cnop, M. Abramowicz, J. Désir: Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. In: European journal of medical genetics. Volume 53, Number 1, 2010 Jan-Feb, pp. 25-28, doi: 10.1016 / j.ejmg.2009.10.004 , PMID 19887127 .
E. Galán-Gómez, EB Sánchez, S. Arias-Castro, JJ Cardesa-García: Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome. In: European journal of medical genetics. Volume 50, number 2, 2007 Mar-Apr, pp. 144-148, doi: 10.1016 / j.ejmg.2006.12.001 , PMID 17321227 .

Individual evidence

^ Martínez-Frías syndrome. In: Orphanet (Rare Disease Database).
^ Martinez-Frias syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ ML Martínez-Frías, JL Frías, E. Galán, R. Domingo, L. Paisán, M. Blanco: Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. In: American journal of medical genetics. Volume 44, Number 3, October 1992, pp. 352-355, doi: 10.1002 / ajmg.1320440316 , PMID 1488984 .

[Orpha-1] Martínez-Frías syndrome. In: Orphanet (Rare Disease Database).

[2] Martinez-Frias syndrome. In: Online Mendelian Inheritance in Man . (English)

[3] ML Martínez-Frías, JL Frías, E. Galán, R. Domingo, L. Paisán, M. Blanco: Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. In: American journal of medical genetics. Volume 44, Number 3, October 1992, pp. 352-355, doi: 10.1002 / ajmg.1320440316 , PMID 1488984 .