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1.
Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 195-198
Article in English | IMSEAR | ID: sea-156661

ABSTRACT

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.


Subject(s)
Abnormalities, Multiple , Anus, Imperforate , Autopsy , Humans , Infant, Newborn , Scoliosis , Umbilical Cord/abnormalities , Urogenital Abnormalities
2.
Indian J Hum Genet ; 2013 Jan; 19(1): 87-89
Article in English | IMSEAR | ID: sea-147642

ABSTRACT

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.


Subject(s)
Abnormalities, Multiple/pathology , Autopsy , Bronchial Fistula/pathology , Constriction, Pathologic , Esophageal Fistula/pathology , Fatal Outcome , Humans , Infant, Newborn , Infant, Newborn, Diseases/pathology , Male , Trachea/abnormalities , Tracheal Diseases/congenital , Trachea/abnormalities
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