We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 leads to qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q-syndrome.
Tracheoesophageal compression by aortic arch anomalies is rare. Nevertheless, one must keep this entity in mind because it is associated with significant morbidity. Although it is generally agreed that the barium swallow shows when an abnormal vessel is compressing the esophagus, the literature disagrees on whether a bronchoscopy is needed in the evaluation of these patients. Not uncommonly the symptoms of airway obstruction persist after surgery resolves the anatomic defect. To provide a basis for postoperative comparison, we propose that all patients with suspected aortic arch anomalies undergo endoscopy just before their operation. A series of 26 cases of aortic arch anomalies affecting the airway, seen over a period of 29 years, is presented. A discussion of the clinical presentation, the diagnostic and bronchoscopic findings, and the results of surgical treatment are presented in addition to a brief embryologic and anatomic discussion. A case illustrating the value of preoperative and postoperative bronchoscopy is presented.
Twenty-six patients in infancy and early childhood with severe pulmonary valve stenosis and intact ventricular septum are reviewed. They were selected from a larger series of 112 patients with pulmonary stenosis of any degree, on account of early onset of symptoms and the severity of the stenosis proven by cardiac catheterization and angiocardiography, at operation or at necropsy. Our criteria for severity in this series were: presence of symptoms within the first two years of life; right ventricular and right atrial hypertrophy on electrocardiography; and right ventricular pressure equal to or higher than systemic blood pressure. The warning signs prompting valvotomy are deterioration of the following features: cyanosis and dyspnoea; congestive cardiac failure; tricuspid incompetence; cardiac enlargement and pulmonary oligaemia on radiograph; and right ventricular and right atrial hypertrophy on electrocardiography. The lives of 13 patients were saved by timely valvotomy. These patients are all well six months to six years after operation. Five patients died before any operation could be performed. Eight patients died within 48 hours of operation. Had some of these patients been operated on earlier the evidence indicates that they would have had a better prognosis. Therefore the importance of early recognition, prompt treatment, and emergency valvotomy, if necessary, is emphasized.Severe pulmonary stenosis with intact ventricular septum and normal aortic root is a much graver condition in the first two years of life than in the older age group. In infancy and early childhood this disease is fatal unless promptly diagnosed and treated by pulmonary valvotomy. Insufficient general appreciation of this condition, despite a few reviews since 1952 (Johnson and Johnson, 1952; Gibson, White, Johnson, and Potts, 1954;Mustard, Rowe, and Firor, 1960;Mustard, Jain, and Trusler, 1968;Luke, 1966;Gersony, Bernhard, Nadas, and Gross, 1967) We are discussing only the early severe group in detail because only in this group did fatalities occur. Of the late severe group 18 patients have undergone successful elective pulmonary valvotomy and are well; a further two patients await operation. There have been many reviews of pulmonary stenosis in this older age group (Brock,
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