Joseph F Juliar

Two sisters at risk for hereditary medullary carcinoma and having small but progressive increases of serum calcitonin in response to calcium infusion underwent thyroidectomy. The thyroid glands were studied for C-cell distribution. Middle and upper portions of the lateral thyroid lobes showed marked increases and clustering of calcitonin-containing cells in comparison with normal thyroid glands. Elevated calcitonin content (670 to 4100 Medical Research Council mU per gram), as compared ...

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that ...