Maria Elena Lorenzetti

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The authors report a young girl with Dubowitz syndrome associated with Tetralogy of Fallot, facial asymmetry and fixed adducted thumbs. At least 80 cases of Dubowitz syndrome have been reported in the literature. Among these patients only 11 have a cardiovascular malformation. Facial asymmetry and adducted thumbs have been noticed in one previously reported(More)
PURPOSE Kabuki syndrome (KS) is a rare dysmorphogenic disorder that is characterized by multiple congenital abnormalities with central nervous system involvement. The diagnosis is clinical and a variable degree of mental retardation is always present. Epilepsy is frequently reported, but a typical electroclinical pattern has not been described. We describe(More)
We report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. In addition, decreased vision, refractive errors,(More)
We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year mental development is slightly retarded. The X-ray findings of severe vertebral segmentation defects and a generalized metaphyseal skeletal dysplasia did not lead to a final,(More)
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