Amniotic bands and the EEC syndrome.
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Biomedical subjects
Publications and source records attributed to S C Pereira.
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We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients.
A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance.
We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.
The role of the visual cortex in brightness and pattern vision was re-examined in the rabbit. Animals were trained on both a brightness and a horizontal-vertical striation discrimination. Bilateral removal of the dura mater overlying the entire visual cortex produced no impairments in either brightness or pattern vision. When the visual cortex was devascularized by removal of the pia mater bilaterally, total loss of pattern vision was found with no impairment of brightness discrimination ability. The significance of the finding that the effects of slowly developing degenerative lesions are the same as those of surgical ablation was discussed.
Both normal and commissure-sectioned rabbits were examined over a variety of visual discrimination tasks. The visual displays were projected at various distances within the frontal visual field of the rabbit. The learning of either a black-white or a vertical-horizontal problem was found to be normal in commissure-cut animals. Furthermore, no deficit in angular acuity was observed. However, when they were tested with the patterns displayed at 25 cm distance, large impairments were found in the commissure-sectioned animals.
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