Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0153429 (Meckel's diverticulum)
1,196 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonates with esophageal atresia and tracheoesophageal fistula (TEF) may present with respiratory distress. Intubation and mechanical ventilation may force air from the tracheobronchial tree, through a distal fistula and into the gastrointestinal tract. We present a newborn with TEF who became moribund during mechanical ventilation. High ventilator pressures transmitted via the TEF caused over distention of the gastrointestinal tract and perforation of a Meckel's diverticulum.
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PMID:Tracheoesophageal fistula associated with perforated Meckel's diverticulum. 143 35

Trisomy 18 syndrome is the second most common multiple malformation syndrome. The incidence is about 0.3 per 100 newborn babies. More than 130 different abnormalities have been noted in the literature on patients with the trisomy 18 syndrome. Trisomy 18 includes a broad spectrum of anomalies and malformations, among which we found Dandy-Walker malformation (DWM) rarely mentioned. DWM is estimated to occur in approximately 1 in 25,000 to 30,000 live births. The major components of DWM are the following: partial or complete absence of the cerebellar vermis, a posterior fossa cyst continuous with the fourth ventricle, and hydrocephalus. Although DWM has been associated with many chromosomal abnormalities and genetic syndromes in live birth, trisomy 18 with DWM is a rare condition. Here we present a female newborn with intrauterine growth retardation and multiple congenital abnormalities including: craniofacial anomaly, tracheoesophageal fistula, esophageal atresia, absent radius and thumb, short ulna, clenched hands, ventricular septal defect, coarctation of the aorta, patent ductus arteriosus, Meckel's diverticulum, ectopic pancreas in the ileum, and DWM. Her chromosome karyotype was 47,XX,+18. This is a case of Trisomy 18 with multiple rare malformations.
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PMID:Trisomy 18 with multiple rare malformations: report of one case. 1825 77

Newborns prenatally exposed to methimazole (active metabolite of carbamizole) for maternal hyperthyroidism may present some disorders in common, but the phenotype is not well defined. Choanal atresia is the most frequent, and other anomalies such as esophageal atresia and aplasia cutis were described with this embryopathy. Additionally, patent omphalomesenteric duct or Meckel's diverticulum in similar association was reported in some patients. The predisposed genetic background has to be considered. We report the case of a newborn exposed to carbamizole during the first 4 weeks of pregnancy and define an association related to prenatal methamizole exposure consisting of esophageal atresia, small omphalocele, and ileal prolapse through a patent omphalomesenteric duct.
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PMID:Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methimazole embryopathy? [Corrected]. 2384 57

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.
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PMID:Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association. 2390 Nov 99