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Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion

✍ Scribed by Ashok Verma


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
90 KB
Volume
32
Category
Article
ISSN
0148-639X

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Patient with large 17p11.2 deletion pres
✍ Natacci, F. ;Corrado, L. ;Pierri, M. ;Rossetti, M. ;Zuccarini, C. ;Riva, P. ;Mio πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 612 KB

We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas