Cranioectodermal dysplasia.
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Biomedical subjects
Publications and source records attributed to M Feingold.
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We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate.
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Twenty-four children with cutaneous hemangiomas were treated with corticosteroids. The indications for therapy included interference with important bodily functions by the hemangioma, thrombocytopenia related to the hemangioma, or serious cosmetic effects secondary to the hemangiomas. Five children had no improvement, twelve had possible improvement, five had probable improvement and two had definite improvement while on corticosteroids. One child had growth retardation as a complication of corticosteroids; this was reversed when the medication wa dicsontinued.
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Patterns of carcinoembryonic antigens (CEA) in fetal gut, seminal plasma, and amniotic fluids were investigated. In fetal gut the broadest range of CEA-expression occurred during the period of maximal mucosal differentiation. While normal adult colon or other fetal stages expressed lower quantitative and qualitative amounts of CEA, maximal CEA expression could be found in a pool of 20 primary adenocarcinomas of the colon. Low levels of CEA in seminal plasma were associated with subfertile, poorly differentiated sperm as opposed to CEA levels found in either normal ejaculates or those obtained from vasectomized, previously fertile males. In amniotic fluid CEA remained at a constant level between the 16th and 22nd week in utero as did fructose and urea levels. Glucose and histaminase levels showed great variance. The relationship of these latter findings to genetic defects is currently being investigated. These data suggest that an ever increasing number of biologic samples will be tested in the clinical laboratories for carcinodevelopmental antigen levels. These will be used for the prognosis and/or diagnosis of abnormal differentiation patterns in patients with cancer or in the developing fetus.
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We studied a family of Portuguese ancestry from the Azores who suffered a progressive neurologic disease characterized by gait ataxia, features similar to Parkinson's disease in some patients, limitation of eye movements, widespread fasciculations of muscles, loss of reflexes in the lower limbs, followed by nystagmus, mild cerebellar tremor and extensor plantar responses. Two post-mortem examinations revealed loss of neurons and gliosis in the substantia nigra, nuclei pontis (and in the putamen in one case) as well as in the nuclei of the vestibular and other cranial nerves, columns of Clarke and anterior horns, in the spinal cord there were also loss of fibers in the fasciculi gracilis and mild changes in the pyramidal tracts. Comparison of the disease in this family with the findings reported in three families of similar ancestry, previously thought to have different disorders, suggests that they may all represent a single genetic entity with variable expression.
In response to our call for letters on television violence we received more than 1500 letters from readers of the Journal. Seventy-two per cent of the leading television advertisers responded to a subsequent letter requesting a description of their policies regarding content of the programs they sponsor. Their responses included exculpating factors such as lack of control over programming, the limited amount of available advertising time and censorship. We presented these responses to network representatives. They commented on the difficulty in defining violence, the current decrease in the amount of violence shown and their activities in response to this issue. We maintain that the burden of proof that television violence does not harm lies with those who introduce it into society. Advertisers and networks will respond, we believe, to the problem of television violence if continuous public pressure is maintained.