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6 results on '"Vonella, Giuseppina"'

2. MECP2 deletions and genotype–phenotype correlation in Rett syndrome

Author

Scala, Elisa, Longo, Ilaria, Ottimo, Federica, Speciale, Caterina, Sampieri, Katia, Katzaki, Eleni, Artuso, Rosangela, Mencarelli, Maria Antonietta, DʼAmbrogio, Tatiana, Vonella, Giuseppina, Zappella, Michele, Hayek, Giuseppe, Battaglia, Agatino, Mari, Francesca, Renieri, Alessandra, and Ariani, Francesca

Published
2007
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3. New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge

Author

Zannolli, Raffaella, primary, Buoni, Sabrina, additional, de Santi, Margherita, additional, Miracco, Clelia, additional, Vonella, Giuseppina, additional, Tassini, Maria, additional, Vivi, Antonio, additional, Viviano, Massimo, additional, Rossi, Tiziana, additional, Orsi, Alessandra, additional, Scarinci, Renato, additional, D’Ambrosio, Alfonso, additional, Livi, Walter, additional, Volterrani, Luca, additional, Fois, Alberto, additional, Willems, Patrick, additional, and Hayek, Joseph, additional

Published
2008
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4. Polydactyly With Ectodermal Defect, Osteopenia, and Mental Delay

Author

Zannolli, Raffaella, primary, Buoni, Sabrina, additional, Viviano, Massimo, additional, Macucci, Francesca, additional, D'Ambrosio, Alfonso, additional, Livi, Walter, additional, Mazzei, Maria Antonietta, additional, Mazzei, Francesco, additional, Sacco, Palmino, additional, Volterrani, Luca, additional, Vonella, Giuseppina, additional, Orsi, Alessandra, additional, Zappella, Michele, additional, and Hayek, Joseph, additional

Published
2007
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6. Polydactyly With Ectodermal Defect, Osteopenia, and Mental Delay.

Author

Zannolli, Raffaella, Buoni, Sabrina, Viviano, Massimo, Macucci, Francesca, D'Ambrosio, Alfonso, Livi, Walter, Mazzei, Maria Antonietta, Mazzei, Francesco, Sacco, Palmino, Volterrani, Luca, Vonella, Giuseppina, Orsi, Alessandra, Zappella, Michele, and Hayek, Joseph

Subjects
HUMAN abnormalities, ECTODERMAL dysplasia, SYNDACTYLY, OSTEOPENIA, DYSPLASIA, INTELLECTUAL disabilities, DEVELOPMENTAL disabilities, PEDIATRIC neurology, JUVENILE diseases
Abstract

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia. (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome. [ABSTRACT FROM AUTHOR]

Published
2008
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