We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849 + 10kbC > T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population.
Two patients who died during the neonatal period with congestive heart failure and marked pulmonary congestion were found at autopsy to have total anomalous pulmonary venous return of the supracardiac type with stenosis of the pulmonary vein. The narrowing was the result of an unusual course of the vein, which passed between the left pulmonary artery and left main bronchus and was stenosed at this point. It is emphasized that the clinical and x-ray findings were indistinguishable from those of total anomalous pulmonary drainage below the diaphragm.
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