Waardenburg's syndrome.
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Biomedical subjects
Publications and source records attributed to S E Levin.
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Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.
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A case of right-sided endocarditis due to Salmonella typhi is described involving a native tricuspid valve in a child who was human immunodeficiency virus negative with no evidence of intravenous drug addiction. The patient had classic features of typhoid and tricuspid regurgitation without clinical evidence of bacterial endocarditis. Transthoracic echocardiography confirmed the tricuspid regurgitation. However, transesophageal echocardiography was necessary to demonstrate the vegetations affecting the tricuspid valve leaflets that made possible the diagnosis of endocarditis. The infection was cured with intravenous ceftriaxone and oral amoxicillin.
A successfully treated case of a spontaneous aortic thrombosis in a neonate is described as an illustration of the advantages of using low molecular weight heparin (LMWH) over unfractionated heparin (UFH) for anticoagulation therapy. A 5-day-old neonate presented with an abdominal aortic thrombosis detected by echocardiography. Intravenous UFH was commenced following thrombectomy. Poor venous access made monitoring the anticoagulation therapy problematic. Subcutaneous LMWH was substituted for UFH. It requires substantially less monitoring and no intravenous access, has fewer side effects, and allows for much earlier discharge from the hospital. Extensive investigation for a hypercoagulable state revealed no definite cause for the thrombus. The findings of homozygosity for a methylene tetrahydrofolate reductase (MTHFR) mutation and a mildly elevated homocysteine level are interesting but unlikely to account for the thrombotic event in this case. Anticoagulation with LMWH proved effective and more convenient than using UFH.
This case report describes a coronary cameral fistula, an isolated cardiac defect, in a child with Down syndrome. Although Down syndrome patients are known to have a high incidence of cardiac defects, to the best of our knowledge this particular association has not been described previously.
We report on one affected twin who presented with cough, dyspnoea and severe failure to thrive. He was found to have gross cardiomegaly on chest X-ray. This proved to be due to an intrapericardial teratoma with an associated pericardial effusion. The operation on this rare tumour was successful.
We present a case of complete trisomy 8 in a 40-day-old male infant, who had a number of congenital heart abnormalities.