Peter's anomaly associated with central spastic palsy.
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Biomedical subjects
Publications and source records attributed to C Galasso.
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The use of antiepileptic drugs in pregnancy may be responsible of minor or major developmental abnormalities at birth or in infancy. The severity of effects and heterogeneity of that abnormalities might be related to a special genetic background giving the fetus a predisposition for epilepsy and vulnerability to major or minor anomalies. The authors report the case of a pregnant woman self prescribing of a politherapy without medical control. She gave birth to a newborn with sever intrauterin retardation, various dysmorphic features and moderate psychomotor delayed.
A total of 21 patients with somatotropic deficiency have been enrolled in a clinical trial of biosynthetic growth hormone (bio-GH) and pituitary growth hormone (pit-GH). Five of them not previously treated (naïve) and 7 previously treated with pit-GH, received bio-GH; 9 received only pit-GH. Biosynthetic-GH was given 12 UI/m2/week. Height velocities during treatment rose, for naïve patients, from 3.6 +/- 0.3 cm/year (before treatment) to 8.7 +/- 1.3 cm/year (after 12 months treatment). For previously treated patients, after a period at least 6 months without any GH therapy, the increase in height was from 2.5 +/- 0.9 cm/year to 6.8 cm/year; and for the patients who received only pit-GH was from 3.4 +/- 1.2 cm/year to 8.0 +/- 1.1 cm/year. No significant difference was observed between the growth velocities obtained with the two preparations. No specific side-effects were noted.
Multiple Pterygium Syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. Due to the extreme phenotypic variability of this syndrome many mild cases may be misdiagnosed or not recognized. The importance of an early diagnosis is to provide an adequate follow-up of these children in order to try to prevent many of the clinical problems they may encounter in their life-time.
In this paper we describe the clinical and radiographic features of a spondylo-epi-methaphyseal dysplasia. Dyggve-Melchior-Clausen syndrome. In these two new cases, without severe mental retardation, we have highlighted the clinical and radiological findings, progression of the skeletal changes that have allowed us to make a diagnosis.
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