Polymorphism of erythrocyte potassium concentration in seaweed-eating sheep.
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Biomedical subjects
Publications and source records attributed to J G Hall.
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A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.
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A 32 year old American Indian man with the Jeune syndrome (asphyxiating thoracic dystrophy), a condition previously reported only in children, is described. The patient exhibited a cardiomyopathy of unknown etiology and evidence of hepatic and renal disease in addition to characteristic osseous malformations of the thorax, pelvis and extremities. The identification of an established syndrome in this patient permits one to view the combination of abnormalities present in a more coherent manner.
Inocula of cultured sheep cells that had been transformed with FeSV were injected into the legs of sheep so that the changes in the cellular and humoral composition of the efferent lymph from the regional node could be studied throughout the immune responses. The times at which immunoblasts and specific antibodies appeared in the lymph were similar to those recorded during responses to conventional antigens. The antiboides were mainly 7S, G1 immunoglobulins directed against virion antigens on the membranes of the transformed cells.
The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.
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Two male infants, whose mothers are sisters and whose fathers are unrelated, were born within two weeks of each other. Both infants had coarctation of the aorta. Since both mothers were exposed to an insecticide while on a camping trip in the first trimester of pregnancy, it is unknown whether genetic or environmental factors caused the anomalies. Observations should be made on other patients with congenital heart defects to clarify the etiologic factors.
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Seven infants have been studied who have a similar pattern of severe craniofacial and limb anomalies associated with aberrant tissue bands. The craniofacial anomalies consist of unusual encephaloceles, facial clefts, and cranial plus midfacial distortion; the limb anomalies consist of constrictions, amputations, and pseudosyndactyly. These defects are interpreted as being secondary to the early distorting and disruptive effects of aberrant tissue bands, the etiology for which is undetermined. Survival beyond the neonatal period has occurred in four of the five liveborn patients, indicating that early death should not necessarily be anticipated. Recurrence risk is apparently negligible.
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