Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032290 (aspiration pneumonia)
 2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.
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PMID:A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations. 405 63

The 4q-Syndrome: Here we report four cases of interstitial and terminal deletions of the long arm of chromosome 4. Case 1 is a 16 month old boy with del(4)(q12q21) who has soft dysmorphic features, tetralogy of Fallot, and severe developmental delay. Case 2 is a male infant with the same deletion and congenital cardiomyopathy. He suffered severe birth asphyxia and died at the age of 6 months. His father was found to have a complex chromosome 4 rearrangement. Case 3 is a female infant with del(4)(q33) who died of aspiration pneumonia. She was mildly dysmorphic and presented with heart failure and hypercalcaemia. Case 4 is a 8 month old girl who has del(4)(q33) and Pierre-Robin sequence. So far about 70 patients with microscopically visible deletions of chromosome 4q have been described. Although they vary in their phenotypes, they have several features in common. We suggest to use the term 4q-syndrome for all macrodeletions of the long arm of chromosome 4.
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PMID:The 4q-Syndrome. 1183 1