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GASTROINTESTINAL ABNORMALITIES, MULTIPLE
Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Gastrointestinal Notes 601346 GASTROINTESTINAL ABNORMALITIES, MULTIPLE table OF CONTENTS  TEXT REFERENCES CONTRIBUTORS CREATION DATE EDIT HISTORY CLINICAL SYNOPSIS Database Links Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.   TEXT Martinez-Frias et al. (1992) reported a seemingly distinct autosomal recessive syndrome in a brother and sister born to a consanguineous gypsy couple. The male infant had duodenal atresia, hypoplastic pancreas and gallbladder, tracheoesophageal fistula, hypoplastic intestines, and hypospadias. His sister had duodenal atresia, hypoplastic pancreas, and atresia of the extrahepatic biliary ducts. Anneren et al. (1998) described a brother and sister with a multiple congenital anomalies (MCA) syndrome that bore both similarities and differences to the syndrome described by Martinez-Frias et al. (1992). Born of healthy, consanguineous parents, their disorder comprised low birthweight, intestinal malrotation, duodenal and esophageal atresia, intra- and extrahepatic biliary atresia, and hypoplastic pancreas. Both children died during infancy. REFERENCES 1. Anneren, G.; Meurling, S.; Lilja, H.; Wallander, J.; von Dobeln, U. : Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. (Letter) Am. J. Med. Genet. 78: 306-307, 1998. PubMed ID : 9677074   2. Martinez-Frias, M.-L.; Frias, J. L.; Galan, E.; Domingo, R.; Paisan, L.; Blanco, M. : Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. Am. J. Med. Genet. 44: 352-355, 1992. PubMed ID : 1488984   CLINICAL SYNOPSIS View Clinical Synopsis Entry CONTRIBUTORS Victor A. McKusick - updated : 8/17/1998 CREATION DATE Iosif W. Lurie : 7/20/1996 EDIT HISTORY carol : 8/18/1998 terry : 8/17/1998 carol : 7/22/1996 Back to UNSW Embryology-Gastrointestinal Notes

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