𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Craniofacial and dental phenotype of Smith–Magenis syndrome

✍ Scribed by Natalia Tomona; Ann C.M. Smith; Jean Pierre Guadagnini; Thomas C. Hart

Book ID
101447409
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
136 KB
Volume
140A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Behavioral phenotype of smith-magenis sy
Behavioral phenotype of smith-magenis syndrome (del 17p11.2)
✍ Smith, Ann C.M.; Dykens, Elizabeth; Greenberg, Frank 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

## Smith -Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome l7 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical fe

Monozygotic twins of Smith–Magenis syndr
Monozygotic twins of Smith–Magenis syndrome
✍ Rika Kosaki; Torayuki Okuyama; Toju Tanaka; Ohsuke Migita; Kenjiro Kosaki 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 3 views
Patient with large 17p11.2 deletion pres
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
✍ Natacci, F. ;Corrado, L. ;Pierri, M. ;Rossetti, M. ;Zuccarini, C. ;Riva, P. ;Mio 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 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