We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.
No satisfactory explanation for the absence of the ileocecal portion of the digestive system in the newborns with cloacal exstrophy has been offered previously. This is a report of such a case in which the lymphocytes and plasma cells were used as tissue markers to identify the origin of the lymphatic-rich ileocecal portion of the digestive tract. The absence of these cells, in this case demonstrated immunohistochemically, is suggestive of a dual origin of the midgut. Normal embryogenesis of the digestive system is reviewed and the possibility of participation of the allantois, in addition to the yolk sac, in the embryogenesis of the ileocecal segment of the gastrointestinal tract is discussed.
This report describes a 20-year-old patient with rapidly fatal fibrosis of the bone marrow associated with leukopenia, anemia, and large number of myeloblasts in peripheral blood. The bone marrow revealed extensive fibrosis and hyperplasia of the myeloblasts and megakaryocytes. The patient failed to respond to chemotherapy, developed fungal and bacterial infections, and died within less than six weeks after the diagnosis was made. The case is reported to support the concept of acute myelofibrosis and to suggest that further cases should be studied to define the clinicopathologic features of this disorder.
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